Phenotypic Abnormality (PA): Abnormal muscle physiology

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Phenotype Ontology
Like Gene Ontology (GO), phenotypy ontology classifies and organizes gene-mutant/null phenotypic information from the very general at the top to more specific terms in the directed acyclic graph (DAG) by viewing an individual term as a node and its relations to parental terms (allowing for multiple parents) as directed edges. To navigate this hierarchy, we display all parental phenotypic terms to the current phenotypic term of interest ordered by their shortest distances to the current term. Also, only direct children phenotypic terms of the current phenotypic term are listed. Phenotype ontologies we have incorporated are as follows:

Disease Ontology (DO) Ontology (DO)
DO semantically integrates disease and medical vocabularies through extensive cross mapping of DO terms to MeSH, ICD, NCI thesaurus, SNOMED and OMIM.
Human Phenotype (HP) Ontology (HP)
HP captures phenotypic abnormalities that are described in OMIM, along with the corresponding disease-causing genes. It includes three complementary biological concepts: Mode_of_Inheritance (MI), ONset_and_clinical_course (ON), and Phenotypic_Abnormality (PA).
Mouse Phenotype (MP) Ontology (MP)
MP describes phenotypes of the mouse after a specific gene is genetically disrupted. Using it, Mouse Genome Informatics (MGI) provides high-coverate gene-level phenotypes for the mouse.
Worm Phenotype (WP) Ontology (WP)
WP classifies and organizes phenotype descriptions for C. elegans and other nematodes. Using it, WormBase provides primary resource for phenotype annotations for C. elegans.
Yeast Phenotype (YP) Ontology (YP)
Based on YP which is the major contributor to the Ascomycete phenotype ontology, Saccharomyces Genome Database (SGD) provides single mutant phenotypes for every gene in the yeast genome.
Fly Phenotype (FP) Ontology (FP)
FP refers to FlyBase controlled vocabulary. Specifically, a structured controlled vocabulary is used for the annotation of alleles (for their mutagen etc) in FlyBase.
Fly Anatomy (FA) Ontology (FA)
FA is a structured controlled vocabulary of the anatomy of Drosophila melanogaster, used for the description of phenotypes and where a gene is expressed.
Zebrafish Anatomy (ZA) Ontology (ZA)
ZA displays anatomical terms of the zebrafish using standard anatomical nomenclature, together with affected genes.
Xenopus Anatomy (XA) Ontology (XA)
XA represents the lineage of tissues and the timing of development for frogs (Xenopus laevis and Xenopus tropicalis). It is used to annotate Xenopus gene expression patterns and mutant and morphant phenotypes.
Arabidopsis Plant Ontology (AP) Ontology (AP)
As a major contributor to Plant Ontology which describes plant anatomical and morphological structures (AN) and growth and developmental stages (DE), the Arabidopsis Information Resource (TAIR) provides arabidopsis plant ontology annotations for the model higher plant Arabidopsis thaliana.
Enzyme Commission (EC) Ontology (EC)
Each enzyme is allocated a four-digit EC number, the first three digits of which define the reaction catalysed and the fourth of which is a unique identifier (serial number). Each enzyme is also assigned a systematic name that uniquely defines the reaction catalysed.
DrugBank ATC (DB) Ontology (DB)
In the Anatomical Therapeutic Chemical (ATC) classification system, drugs are classified in groups at five different levels according to the organ or system (1st level, anatomical main group) on which they act and their therapeutic (2nd level, therapeutic subgroup), pharmacological (3rd level, pharmacological subgroup) and chemical properties (4th level, chemical subgroup; 5th level, chemical substance). Only drugs in DrugBank are considered.
UniProtKB KeyWords (KW) Ontology (KW)
Keywords in UniProtKB are controlled vocabulary, providing a summary of the entry content and are used to index UniProtKB/Swiss-Prot entries based on 10 categories (the category "Technical term" being excluded here). Each keyword is attributed manually to UniProtKB/Swiss-Prot entries and automatically to UniProtKB/TrEMBL entries (according to specific annotation rules).
UniProtKB UniPathway (UP) Ontology (UP)
UP is a fully manually curated resource for the representation and annotation of metabolic pathways, being used as controlled vocabulary for pathway annotation in UniProtKB.

Structural Domain Phenotype Ontology and its Annotations
Structural Classification of Proteins (SCOP) classifies evolutionary-related domains into Superfamily level and Family level. Using the phenotype ontologies above, we have generated the domain-centric phenotype annotations, and further identified those phenotype terms which are the most informative to annotate SCOP domains. Promisingly, domain-centric phenotypic annotations can serve as an alternative starting point to explore genotype-phenotype relationships. We provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.

Structural Domain Disease Ontology (DO) Ontology (SDDO) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DO.txt, and the corresponding ontology:SDDO.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Human Phenotype (HP) Ontology (SDHP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2HP.txt, and the corresponding ontology:SDHP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Mouse Phenotype (MP) Ontology (SDMP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2MP.txt, and the corresponding ontology:SDMP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Worm Phenotype (WP) Ontology (SDWP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2WP.txt, and the corresponding ontology:SDWP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Yeast Phenotype (YP) Ontology (SDYP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2YP.txt, and the corresponding ontology:SDYP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Fly Phenotype (FP) Ontology (SDFP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FP.txt, and the corresponding ontology:SDFP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Fly Anatomy (FA) Ontology (SDFA) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2FA.txt, and the corresponding ontology:SDFA.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Zebrafish Anatomy (ZA) Ontology (SDZA) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2ZA.txt, and the corresponding ontology:SDZA.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Xenopus Anatomy (XA) Ontology (SDXA) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2XA.txt, and the corresponding ontology:SDXA.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Arabidopsis Plant Ontology (AP) Ontology (SDAP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2AP.txt, and the corresponding ontology:SDAP.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain Enzyme Commission (EC) Ontology (SDEC) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2EC.txt, and the corresponding ontology:SDEC.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain DrugBank ATC (DB) Ontology (SDDB) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2DB.txt, and the corresponding ontology:SDDB.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain UniProtKB KeyWords (KW) Ontology (SDKW) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2KW.txt, and the corresponding ontology:SDKW.txt) and mysql tables (Domain2PO.sql.gz).
Structural Domain UniProtKB UniPathway (UP) Ontology (SDUP) and its Annotations:
For details, please visit Document: PO annotation for SCOP domains, wherein Data Availability contains parsable flat files (the annotation:Domain2UP.txt, and the corresponding ontology:SDUP.txt) and mysql tables (Domain2PO.sql.gz).

Supra-domain Phenotype Ontology and its Annotations
Although domain-centric annotations hold great promise in describing phenotypic nature of independent domains, most domains themselves may not just work alone. In multi-domain proteins, they may be combined together to form distinct domain architectures. The recombination of the existing domains is considered as one of major driving forces for phenotypic diversificaation. As an extension, we have also generated supra-domain phenotype ontology and its annotations. Compared to domain-centric phenotype ontology and annotations (SCOP domains at the Superfamily level and Family level), this version focuses on supra-domains and individual SCOP domains ONLY at the Superfamily level. Besides, in terms of individual superfamilies, their annotations from the domain-centric version may be different from those from supra-domains version. Depending on your focus, the former should be used for the consideration of both the Superfamily level and Family level, otherwise the latter should be used if you are interested in domain combinations. Also, we provide several relevant files for the download, including the annotation and the corresponding ontology for each phenotype ontology.

Supra-domain Domain Disease Ontology (DO) Ontology (SPDO) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DO.txt, and the corresponding ontology:SPDO.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Human Phenotype (HP) Ontology (SPHO) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2HP.txt, and the corresponding ontology:SPHO.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Mouse Phenotype (MP) Ontology (SPMP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2MP.txt, and the corresponding ontology:SPMP.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Worm Phenotype (WP) Ontology (SPWP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2WP.txt, and the corresponding ontology:SPWP.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Yeast Phenotype (YP) Ontology (SPYP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2YP.txt, and the corresponding ontology:SPYP.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Fly Phenotype (FP) Ontology (SPFP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FP.txt, and the corresponding ontology:SPFP.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Fly Anatomy (FA) Ontology (SPFA) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2FA.txt, and the corresponding ontology:SPFA.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Zebrafish Anatomy (ZA) Ontology (SPZA) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2ZA.txt, and the corresponding ontology:SPZA.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Xenopus Anatomy (XA) Ontology (SPXA) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2XA.txt, and the corresponding ontology:SPXA.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Arabidopsis Plant Ontology (AP) Ontology (SPAP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2AP.txt, and the corresponding ontology:SPAP.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain Enzyme Commission (EC) Ontology (SPEC) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2EC.txt, and the corresponding ontology:SPEC.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain DrugBank ATC (DB) Ontology (SPDB) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2DB.txt, and the corresponding ontology:SPDB.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain UniProtKB KeyWords (KW) Ontology (SPKW) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2KW.txt, and the corresponding ontology:SPKW.txt) and mysql tables (SP2PO.sql.gz).
Supra-domain Domain UniProtKB UniPathway (UP) Ontology (SPUP) and its Annotations:
For details, please visit Document: PO annotation for Supra-domains, wherein Data Availability contains parsable flat files (the annotation:SP2UP.txt, and the corresponding ontology:SPUP.txt) and mysql tables (SP2PO.sql.gz).

Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Root: HP Hierarchy (human phenotype with 3 sub-ontologies PA, MI, ON)

Shortest distance to current term (+ for parents, - for children) HP term [HP ID] <#Children> (#SF|#FA) #Supra-domain
(Single|Duplex|Triple)

+ + 2: Phenotypic abnormality [HP:0000118] <25>

+ 1: Abnormality of the musculature [HP:0003011] <3> (64|83) (70|33|9)

0: Abnormal muscle physiology [HP:0011804] <12> (44|59) (51|22|5)

- 1: Muscle weakness [HP:0001324] <22> (13|14) (15|4|0)

- 1: EMG abnormality [HP:0003457] <10> (4|3) (4|2|0)

- 1: Myotonia [HP:0002486] <10> (0|0) (0|0|0)

- 1: Functional motor deficit [HP:0004302] <7> (1|5) (5|2|0)

- 1: Muscle stiffness [HP:0003552] <5> (0|0) (0|0|0)

- 1: Muscle abnormality related to mitochondrial dysfunction [HP:0003800] <4> (0|0) (0|0|0)

- 1: Muscle spasm [HP:0003394] <4> (1|1) (1|0|0)

- 1: Abnormal muscle tone [HP:0003808] <3> (23|37) (27|15|5)

- 1: Increased muscle fatiguability [HP:0003750] <1> (0|0) (1|0|0)

- 1: Gastroparesis [HP:0002578] (0|0) (0|0|0)

- 1: Muscle hyperirritability [HP:0003559] (0|0) (0|0|0)

- 1: Tetany [HP:0001281] (0|0) (0|0|0)

Jump to [ Top · Phenotype Hierarchy · Superfamily · Family · Supra-domain ]

Superfamily

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SCOP term	FDR (all)	Annotation (direct or inherited)
Hect, E3 ligase catalytic domain	0	Direct
Putative DNA-binding domain	0	Direct
Rhodanese/Cell cycle control phosphatase	0	Direct
TK C-terminal domain-like	0	Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain	0	Direct
Folate-binding domain	0	Direct
Methylglyoxal synthase-like	0	Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	Direct
SNARE fusion complex	0	Direct
Acyl-CoA N-acyltransferases (Nat)	0	Direct
ADC-like	0	Direct
Hook domain	0	Direct
Cytochrome b5-like heme/steroid binding domain	0	Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex	0	Direct
Thiamin diphosphate-binding fold (THDP-binding)	0	Direct
Aminomethyltransferase beta-barrel domain	0	Direct
Rudiment single hybrid motif	0	Direct
Pseudouridine synthase	0	Direct
Glycerol-3-phosphate (1)-acyltransferase	0	Direct
Smc hinge domain	0	Direct
4Fe-4S ferredoxins	0	Direct
NTF2-like	0	Direct
Ribonuclease PH domain 2-like	0	Direct
PP2C-like	0	Direct
S15/NS1 RNA-binding domain	0	Direct
CCCH zinc finger	0	Direct
Actin depolymerizing proteins	0	Direct
Nucleotidylyl transferase	0.00005739	Direct
Class II aaRS and biotin synthetases	0.0005214	Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases	0.003826	Inherited
Single hybrid motif	0.01193	Inherited
Periplasmic binding protein-like I	0.01725	Inherited
Translation proteins	0.07737	Inherited
Voltage-gated potassium channels	0.08155	Inherited
Calcium-dependent phosphotriesterase	0.1509	Inherited
HSP20-like chaperones	0.2133	Inherited
Neurotransmitter-gated ion-channel transmembrane pore	0.2799	Inherited
Nicotinic receptor ligand binding domain-like	0.2799	Inherited
MIR domain	0.3472	Inherited
RNA-binding domain, RBD	0.3811	Inherited
Tropomyosin	0.5547	Inherited
vWA-like	0.8825	Inherited
Troponin coil-coiled subunits	0.9397	Inherited
Intermediate filament protein, coiled coil region	1	Inherited

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Family

(show details)

SCOP term	FDR (all)	Annotation (direct or inherited)
CCCH zinc finger	0	Direct
a tRNA synthase domain	0	Direct
Amylase, catalytic domain	0	Direct
Myotubularin-like phosphatases	0	Direct
Ferredoxin domains from multidomain proteins	0	Direct
Protein serine/threonine phosphatase	0	Direct
BC N-terminal domain-like	0	Direct
N-acetyl transferase, NAT	0	Direct
Serum paraoxonase/arylesterase 1, PON1	0	Direct
alpha-Amylases, C-terminal beta-sheet domain	0	Direct
Glycosyl transferases group 1	0	Direct
Cytochrome b5	0	Direct
SNARE fusion complex	0	Direct
Phosphate binding protein-like	0	Direct
beta-glycanases	0	Direct
Association domain of calcium/calmodulin-dependent protein kinase type II alpha subunit, CAMK2A	0	Direct
PP2C-like	0	Direct
Smc hinge domain	0	Direct
Branched-chain alpha-keto acid dehydrogenase Pyr module	0	Direct
Choline/Carnitine O-acyltransferase	0	Direct
Branched-chain alpha-keto acid dehydrogenase PP module	0	Direct
GABA-aminotransferase-like	0	Direct
Aminomethyltransferase beta-barrel domain	0	Direct
Hect, E3 ligase catalytic domain	0	Direct
Ribonuclease PH domain 1-like	0	Direct
Ubiquitin carboxyl-terminal hydrolase, UCH	0	Direct
Biotin dependent carboxylase carboxyltransferase domain	0	Direct
Exostosin	0	Direct
Histone lysine methyltransferases	0	Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	Direct
Inositol polyphosphate 5-phosphatase (IPP5)	0	Direct
Branched-chain alpha-keto acid dehydrogenase beta-subunit, C-terminal-domain	0	Direct
BC C-terminal domain-like	0	Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain	0	Direct
UBA domain	0	Direct
Ribonuclease PH domain 2-like	0	Direct
Anticodon-binding domain	0	Direct
Aminomethyltransferase folate-binding domain	0	Direct
IF2B-like	0	Direct
BC ATP-binding domain-like	0	Direct
Class I aminoacyl-tRNA synthetases (RS), catalytic domain	0.00001613	Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases	0.003644	Inherited
Medium chain acyl-CoA dehydrogenase-like, C-terminal domain	0.006796	Inherited
Medium chain acyl-CoA dehydrogenase, NM (N-terminal and middle) domains	0.006796	Inherited
Biotinyl/lipoyl-carrier proteins and domains	0.006796	Inherited
PHD domain	0.02097	Inherited
ValRS/IleRS/LeuRS editing domain	0.03928	Inherited
Elongation factors	0.04339	Inherited
Clathrin adaptor core protein	0.06884	Inherited
Neurotransmitter-gated ion-channel transmembrane pore	0.2214	Inherited
Nicotinic receptor ligand binding domain-like	0.2214	Inherited
MIR domain	0.2922	Inherited
Canonical RBD	0.4091	Inherited
Extended AAA-ATPase domain	0.4452	Inherited
Myosin rod fragments	0.4935	Inherited
Tropomyosin	0.4935	Inherited
Integrin A (or I) domain	0.8716	Inherited
Laminin-type module	0.9833	Inherited
Intermediate filament protein, coiled coil region	1	Inherited

Plot distribution on phylogenetic tree for Superfamily and/or Family domains annotated by this phenotype term

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Supra-domain (including individual superfamily)

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Supra-domain (Single)	FDR (all)	Annotation (direct or inherited)
Hook domain	0	Direct
Acyl-CoA N-acyltransferases (Nat)	0	Direct
FAD/NAD-linked reductases, dimerisation (C-terminal) domain	0	Direct
Smc hinge domain	0	Direct
TK C-terminal domain-like	0	Direct
Cytochrome b5-like heme/steroid binding domain	0	Direct
Pseudouridine synthase	0	Direct
S15/NS1 RNA-binding domain	0	Direct
Putative DNA-binding domain	0	Direct
PP2C-like	0	Direct
Rudiment single hybrid motif	0	Direct
Folate-binding domain	0	Direct
EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	Direct
Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex	0	Direct
Hect, E3 ligase catalytic domain	0	Direct
SNARE fusion complex	0	Direct
Actin depolymerizing proteins	0	Direct
4Fe-4S ferredoxins	0	Direct
Ribonuclease PH domain 2-like	0	Direct
Aminomethyltransferase beta-barrel domain	0	Direct
Methylglyoxal synthase-like	0	Direct
Glycerol-3-phosphate (1)-acyltransferase	0	Direct
Thiamin diphosphate-binding fold (THDP-binding)	0	Direct
ADC-like	0	Direct
CCCH zinc finger	0	Direct
NTF2-like	0	Direct
Rhodanese/Cell cycle control phosphatase	0	Direct
Nucleotidylyl transferase	0.00002583	Direct
Class II aaRS and biotin synthetases	0.0002636	Direct
Anticodon-binding domain of a subclass of class I aminoacyl-tRNA synthetases	0.002263	Inherited
Single hybrid motif	0.007769	Inherited
Periplasmic binding protein-like I	0.01158	Inherited
ATPase domain of HSP90 chaperone/DNA topoisomerase II/histidine kinase	0.02937	Inherited
ValRS/IleRS/LeuRS editing domain	0.04231	Inherited
Translation proteins	0.05942	Inherited
Voltage-gated potassium channels	0.06297	Inherited
Calcium-dependent phosphotriesterase	0.1232	Inherited
RING/U-box	0.1326	Inherited
HSP20-like chaperones	0.1795	Inherited
Nicotinic receptor ligand binding domain-like	0.2414	Inherited
Neurotransmitter-gated ion-channel transmembrane pore	0.2414	Inherited
MIR domain	0.3055	Inherited
RNA-binding domain, RBD	0.3381	Inherited
ARM repeat	0.3418	Inherited
Glucocorticoid receptor-like (DNA-binding domain)	0.4781	Inherited
Myosin rod fragments	0.511	Inherited
Tropomyosin	0.511	Inherited
vWA-like	0.8525	Inherited
POZ domain	0.8885	Inherited
Troponin coil-coiled subunits	0.9133	Inherited
Intermediate filament protein, coiled coil region	0.9901	Inherited

(show details)

Supra-domain (Duplex) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
50249,55681 50249 - Nucleic acid-binding proteins 55681 - Class II aaRS and biotin synthetases	0	Direct
56059,51246 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif	0	Direct
47005,52777 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases	0	Direct
103025,101790 103025 - Folate-binding domain 101790 - Aminomethyltransferase beta-barrel domain	0	Direct
57903,57903 57903 - FYVE/PHD zinc finger 57903 - FYVE/PHD zinc finger	0	Direct
50447,54980 50447 - Translation proteins 54980 - EF-G C-terminal domain-like	0	Direct
50447,50465 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	Direct
51230,47005 51230 - Single hybrid motif 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex	0	Direct
54211,55666 54211 - Ribosomal protein S5 domain 2-like 55666 - Ribonuclease PH domain 2-like	0	Direct
52518,52518 52518 - Thiamin diphosphate-binding fold (THDP-binding) 52518 - Thiamin diphosphate-binding fold (THDP-binding)	0	Direct
57850,57845 57850 - RING/U-box 57845 - B-box zinc-binding domain	0	Direct
51905,55424 51905 - FAD/NAD(P)-binding domain 55424 - FAD/NAD-linked reductases, dimerisation (C-terminal) domain	0	Direct
54928,90209 54928 - RNA-binding domain, RBD 90209 - Ran binding protein zinc finger-like	0	Direct
53822,53850 53822 - Periplasmic binding protein-like I 53850 - Periplasmic binding protein-like II	0	Direct
47060,55681 47060 - S15/NS1 RNA-binding domain 55681 - Class II aaRS and biotin synthetases	0	Direct
52518,52922 52518 - Thiamin diphosphate-binding fold (THDP-binding) 52922 - TK C-terminal domain-like	0	Direct
52777,52777 52777 - CoA-dependent acyltransferases 52777 - CoA-dependent acyltransferases	0	Direct
50677,52374 50677 - ValRS/IleRS/LeuRS editing domain 52374 - Nucleotidylyl transferase	0.04231	Inherited
52540,50447 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins	0.04742	Inherited
63712,90112 63712 - Nicotinic receptor ligand binding domain-like 90112 - Neurotransmitter-gated ion-channel transmembrane pore	0.2414	Inherited
53300,53300 53300 - vWA-like 53300 - vWA-like	0.2706	Inherited
54928,54928 54928 - RNA-binding domain, RBD 54928 - RNA-binding domain, RBD	0.4651	Inherited

(show details)

Supra-domain (Triple) in N- to C-terminal order	FDR (all)	Annotation (direct or inherited)
52540,50447,50465 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 50465 - EF-Tu/eEF-1alpha/eIF2-gamma C-terminal domain	0	Direct
52440,56059,51246 52440 - PreATP-grasp domain 56059 - Glutathione synthetase ATP-binding domain-like 51246 - Rudiment single hybrid motif	0	Direct
51230,47005,52777 51230 - Single hybrid motif 47005 - Peripheral subunit-binding domain of 2-oxo acid dehydrogenase complex 52777 - CoA-dependent acyltransferases	0	Direct
49899,49899,57196 49899 - Concanavalin A-like lectins/glucanases 49899 - Concanavalin A-like lectins/glucanases 57196 - EGF/Laminin	0	Direct
52540,50447,54980 52540 - P-loop containing nucleoside triphosphate hydrolases 50447 - Translation proteins 54980 - EF-G C-terminal domain-like	0	Direct

Plot distribution on phylogenetic tree for Supra-domains (Single/Individual) annotated by this phenotype term

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Phenotypic Abnormality (PA): Abnormal muscle physiology

Superfamily

Family

Supra-domain (including individual superfamily)