Lamin A/C globular tail domain family

SCOP classification

• Root: SCOP hierarchy in SUPERFAMILY [ 0] (11)
• Class: All beta proteins [ 48724] (174)
• Fold: Immunoglobulin-like beta-sandwich [ 48725] (28)
• Superfamily: Lamin A/C globular tail domain [ 74853]
• Family: Lamin A/C globular tail domain [ 74854]

---

Family statistics

	Genomes (88)	Uniprot 2018_03 genome	PDB chains (SCOP 1.75)
Domains	298	813	3
Proteins	298	809	3

---

Disease Ontology (DO)

Highlighted in gray are those with FDR_all>0.001

	DO term	FDR (all)	IC level	SDDO level	Annotation (direct or inherited)
Disease Ontology (DO)	disease of anatomical entity	0	0.2414	--	DIRECT

---

Human Phenotype (HP)

Highlighted in gray are those with FDR_all>0.001

	HP term	FDR (all)	IC level	SDHP level	Annotation (direct or inherited)
Mode of Inheritance (MI)	Autosomal dominant inheritance	0	0.516	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the genital system	0	0.9309	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the urinary system	0	0.8496	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the nervous system	0	0.2371	--	DIRECT
Phenotypic Abnormality (PA)	Global developmental delay	0	1.232	--	DIRECT
Phenotypic Abnormality (PA)	Morphological abnormality of the central nervous system	0	0.533	--	DIRECT
Phenotypic Abnormality (PA)	Abnormality of brain morphology	0	0.6631	--	DIRECT
Phenotypic Abnormality (PA)	Neurodevelopmental abnormality	0	0.7381	--	DIRECT
Phenotypic Abnormality (PA)	Abnormal ear physiology	0	1.462	--	DIRECT
Phenotypic Abnormality (PA)	Hearing abnormality	1	1.462	--	INHERITED FROM: Hearing impairment
Phenotypic Abnormality (PA)	Abnormality of the genitourinary system	0	0.6051	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the integument	0	0.6235	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the musculature	0	0.5433	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of nervous system physiology	0	0.3869	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of nervous system morphology	0	0.4756	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the digestive system	0	0.5759	Least Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of the ear	0	0.9572	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of central motor function	0	1.047	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of higher mental function	0	0.8092	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormal reproductive system morphology	0	1.031	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Neurodevelopmental delay	0	0.9853	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Abnormality of movement	0	1.064	Moderately Informative	DIRECT
Phenotypic Abnormality (PA)	Hearing impairment	0	1.462	Informative	DIRECT
Phenotypic Abnormality (PA)	Intellectual disability	0	1.421	Informative	DIRECT
Phenotypic Abnormality (PA)	Gait disturbance	0	1.86	Highly Informative	DIRECT

---

Mouse Phenotype (MP)

Highlighted in gray are those with FDR_all>0.001

	MP term	FDR (all)	IC level	SDMP level	Annotation (direct or inherited)
Mammalian Phenotype (MP)	abnormal cell proliferation	0	1.324	--	DIRECT
Mammalian Phenotype (MP)	abnormal respiration	0	1.427	--	DIRECT
Mammalian Phenotype (MP)	abnormal respiratory system physiology	0	1.281	--	DIRECT
Mammalian Phenotype (MP)	abnormal diaphragm morphology	0	2.302	--	DIRECT
Mammalian Phenotype (MP)	abnormal keratinocyte morphology	0	2.603	--	DIRECT
Mammalian Phenotype (MP)	abnormal somatic nervous system morphology	0	0.931	--	DIRECT
Mammalian Phenotype (MP)	abnormal nervous system morphology	0	0.5861	--	DIRECT
Mammalian Phenotype (MP)	abnormal nervous system physiology	0	0.825	--	DIRECT
Mammalian Phenotype (MP)	abnormal cell differentiation	0	1.373	--	DIRECT
Mammalian Phenotype (MP)	muscle phenotype	0	0.8473	--	DIRECT
Mammalian Phenotype (MP)	homeostasis/metabolism phenotype	0	0.3626	--	DIRECT
Mammalian Phenotype (MP)	abnormal cell physiology	0	0.6209	--	DIRECT
Mammalian Phenotype (MP)	abnormal blood homeostasis	0	0.6893	--	DIRECT
Mammalian Phenotype (MP)	abnormal survival	0	0.6441	--	DIRECT
Mammalian Phenotype (MP)	preweaning lethality	0	0.7055	--	DIRECT
Mammalian Phenotype (MP)	integument phenotype	0	0.797	--	DIRECT
Mammalian Phenotype (MP)	abnormal homeostasis	0	0.4926	Least Informative	DIRECT
Mammalian Phenotype (MP)	nervous system phenotype	0	0.4959	Least Informative	DIRECT
Mammalian Phenotype (MP)	growth/size/body region phenotype	0	0.6254	Least Informative	DIRECT
Mammalian Phenotype (MP)	cellular phenotype	0	0.5387	Least Informative	DIRECT
Mammalian Phenotype (MP)	mortality/aging	0	0.5424	Least Informative	DIRECT
Mammalian Phenotype (MP)	abnormal head morphology	0	1.241	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	abnormal skin morphology	0	1.188	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	abnormal muscle morphology	0	1.112	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	abnormal neuron morphology	0	0.8323	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	respiratory system phenotype	0	0.9404	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	lethality during fetal growth through weaning	0	1.035	Moderately Informative	DIRECT
Mammalian Phenotype (MP)	abnormal skeletal muscle morphology	0	1.427	Informative	DIRECT
Mammalian Phenotype (MP)	abnormal epidermal layer morphology	0	1.562	Informative	DIRECT
Mammalian Phenotype (MP)	abnormal spinal nerve morphology	0	2.126	Highly Informative	DIRECT
Mammalian Phenotype (MP)	abnormal hypaxial muscle morphology	0	1.825	Highly Informative	DIRECT

---

Worm Phenotype (WP)

Highlighted in gray are those with FDR_all>0.001

	WP term	FDR (all)	IC level	SDWP level	Annotation (direct or inherited)
Worm Phenotype (WP)	growth variant	0	0.3438	--	DIRECT
Worm Phenotype (WP)	embryonic lethal	0	0.046	--	DIRECT
Worm Phenotype (WP)	lethal	0	0.00521	--	DIRECT
Worm Phenotype (WP)	development variant	0	0.001482	--	DIRECT
Worm Phenotype (WP)	morphology variant	0	0.046	--	DIRECT
Worm Phenotype (WP)	organism development variant	0	0.00297	--	DIRECT
Worm Phenotype (WP)	organism morphology variant	0	0.1372	--	DIRECT
Worm Phenotype (WP)	organism physiology variant	0	0.1342	--	DIRECT
Worm Phenotype (WP)	organism homeostasis metabolism variant	0	0.1444	--	DIRECT
Worm Phenotype (WP)	embryonic development variant	0	0.04518	--	DIRECT
Worm Phenotype (WP)	muscle attachment variant	0.00000009056	2.468	--	DIRECT
Worm Phenotype (WP)	excretory canal morphology variant	0.000000104	2.468	--	DIRECT
Worm Phenotype (WP)	excretory cell morphology variant	0.000001867	2.468	--	DIRECT
Worm Phenotype (WP)	excretory secretory system morphology variant	0.000002256	2.468	--	DIRECT
Worm Phenotype (WP)	body width variant	0.0001388	1.237	--	DIRECT
Worm Phenotype (WP)	muscle system physiology variant	0.0001581	1.306	--	DIRECT
Worm Phenotype (WP)	body size variant	0.0002661	1.189	--	DIRECT
Worm Phenotype (WP)	body morphology variant	0.0003998	1.145	--	DIRECT
Worm Phenotype (WP)	striated muscle morphology variant	0.00103	1.407	--	INHERITED FROM: body wall muscle sarcomere morphology variant
Worm Phenotype (WP)	organ system morphology variant	0.01281	0.7516	--	INHERITED FROM: excretory canal morphology variant || body wall muscle sarcomere morphology variant || excretory cell morphology variant || excretory secretory system morphology variant
Worm Phenotype (WP)	cell morphology variant	0.0139	0.7558	--	INHERITED FROM: excretory cell morphology variant || body wall muscle sarcomere morphology variant || excretory canal morphology variant
Worm Phenotype (WP)	muscle system morphology variant	0.01497	1.407	--	INHERITED FROM: body wall muscle sarcomere morphology variant
Worm Phenotype (WP)	activity level variant	0.02367	1.337	--	INHERITED FROM: paralyzed
Worm Phenotype (WP)	locomotion variant	0.02942	1.053	--	INHERITED FROM: paralyzed
Worm Phenotype (WP)	muscle cell morphology variant	0.04418	1.337	--	INHERITED FROM: body wall muscle sarcomere morphology variant
Worm Phenotype (WP)	behavior variant	0.05552	0.6859	--	INHERITED FROM: paralyzed
Worm Phenotype (WP)	gene expression variant	0.5467	0.6256	--	INHERITED FROM: antibody staining variant || protein expression variant
Worm Phenotype (WP)	organ system physiology variant	0.951	0.04518	--	INHERITED FROM: muscle system physiology variant
Worm Phenotype (WP)	physiology variant	1	0	--	INHERITED FROM: muscle system development variant || paralyzed || muscle attachment variant || organism homeostasis metabolism variant || lethal || antibody staining variant || organism physiology variant || development variant || growth variant || embryonic development variant || embryonic lethal || muscle system physiology variant || protein expression variant || organism development variant
Worm Phenotype (WP)	body wall muscle morphology variant	1	1.446	--	INHERITED FROM: body wall muscle sarcomere morphology variant
Worm Phenotype (WP)	organism behavior variant	0.05447	0.6859	Least Informative	INHERITED FROM: paralyzed
Worm Phenotype (WP)	organism metabolism processing variant	0.1104	0.4899	Least Informative	INHERITED FROM: antibody staining variant || protein expression variant
Worm Phenotype (WP)	protein expression variant	0.000175	1.125	Moderately Informative	DIRECT
Worm Phenotype (WP)	organism segment morphology variant	0.0009845	1.087	Moderately Informative	DIRECT
Worm Phenotype (WP)	body region morphology variant	0.001002	1.087	Moderately Informative	INHERITED FROM: body width variant || body size variant || body morphology variant
Worm Phenotype (WP)	cell type morphology variant	0.003167	0.8878	Moderately Informative	INHERITED FROM: body wall muscle sarcomere morphology variant
Worm Phenotype (WP)	organ system development variant	0.06783	0.9113	Moderately Informative	INHERITED FROM: muscle system development variant || muscle attachment variant
Worm Phenotype (WP)	movement variant	0.1482	1.02	Moderately Informative	INHERITED FROM: paralyzed
Worm Phenotype (WP)	body wall muscle sarcomere morphology variant	0.0008018	1.446	Informative	DIRECT
Worm Phenotype (WP)	locomotion reduced	0.002161	1.49	Informative	INHERITED FROM: paralyzed
Worm Phenotype (WP)	antibody staining variant	0.00000001961	2.07	Highly Informative	DIRECT
Worm Phenotype (WP)	muscle system development variant	0.000002935	2.07	Highly Informative	DIRECT
Worm Phenotype (WP)	paralyzed	0.00001258	2.167	Highly Informative	DIRECT

---

Xenopus Anatomy (XA)

Highlighted in gray are those with FDR_all>0.001

	XA term	FDR (all)	IC level	SDXA level	Annotation (direct or inherited)
Xenopus ANatomical entity (XAN)	head region	0	0.4759	--	DIRECT
Xenopus ANatomical entity (XAN)	central nervous system	0	0.5841	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical structure	0	0	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical group	0	0.1408	--	DIRECT
Xenopus ANatomical entity (XAN)	organism subdivision	0	0.1679	--	DIRECT
Xenopus ANatomical entity (XAN)	compound organ	0	0.2177	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical region	0	0.1803	--	DIRECT
Xenopus ANatomical entity (XAN)	multicellular anatomical structure	0	0.1131	--	DIRECT
Xenopus ANatomical entity (XAN)	anatomical system	1	0.283	--	INHERITED FROM: nervous system || central nervous system
Xenopus ANatomical entity (XAN)	whole organism	1	0.0884	--	INHERITED FROM: head region || nervous system || anatomical group || cavitated compound organ || multicellular anatomical structure || compound organ || anatomical region || central nervous system || organism subdivision || head
Xenopus ANatomical entity (XAN)	nervous system	0	0.5619	Least Informative	DIRECT
Xenopus ANatomical entity (XAN)	head	0	0.4777	Least Informative	DIRECT
Xenopus ANatomical entity (XAN)	cavitated compound organ	0	0.2685	Least Informative	DIRECT
Xenopus DEvelopment stage (XDE)	NF stage	0	0.01895	--	DIRECT

---