ConVarT

EIF2S1 (GeneID: 1965) | Homo sapiens

Description:	eukaryotic translation initiation factor 2 subunit alpha [Source:HGNC Symbol;Acc:HGNC:3265]
Synonyms:	EIF2, EIF-2, EIF-2alpha, EIF2A, EIF-2A
Other ID(s):	HGNC:3265, ENSG00000134001
Protein Accession Numbers:	NP_004085, ENST00000466499, ENST00000557310, ENST00000256383, ENST00000555876
Statistics:	gnomAD(111)

gnomAD Variants By Annotation

Missense Variant

Splice Region Variant

Synonymous Variant

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000256383 ENST00000466499 ENST00000555876 ENST00000557310 NP_004085

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Missense Variant

Splice Region Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
14-67831488-C-T	ENST00000557310	p.Pro2Ser	Missense Variant	0	0	0	rs1277999711
14-67831489-C-G	ENST00000557310	p.Pro2Arg	Missense Variant	0	0	0	rs559407878
14-67831490-G-A	ENST00000557310	p.Pro2Pro	Synonymous Variant	1	31364	0.000032	rs374574823
14-67831491-G-A	ENST00000557310	p.Gly3Ser	Missense Variant	0	0	0	rs1258710396
14-67831496-A-G	ENST00000557310	p.Leu4Leu	Synonymous Variant	0	0	0	rs769198766
14-67831497-A-C	ENST00000557310	p.Ser5Arg	Missense Variant	0	0	0	rs776915139
14-67831506-T-G	ENST00000557310	p.Phe8Val	Missense Variant	0	0	0	rs770040509
14-67831513-A-G	ENST00000557310	p.Gln10Arg	Missense Variant	0	0	0	rs1158700110
14-67831516-A-G	ENST00000557310	p.His11Arg	Missense Variant	0	0	0	rs144522814
14-67831519-A-C	ENST00000557310	p.Lys12Thr	Missense Variant	0	0	0	rs1423824616
14-67831530-G-T	ENST00000557310	p.Val16Leu	Missense Variant	0	0	0	rs1432829789
14-67831536-G-A	ENST00000557310	p.Asp18Asn	Missense Variant	0	0	0	rs1175472919
14-67831545-A-C	ENST00000557310	p.Met21Leu	Missense Variant	0	0	0	rs1375937506
14-67831559-A-G	ENST00000557310	p.Arg25Arg	Synonymous Variant	0	0	0	rs1409001917
14-67831563-A-G	ENST00000557310	p.Ile27Val	Missense Variant	0	0	0	rs773454508
14-67831580-T-C	ENST00000557310	p.Ala32Ala	Synonymous Variant	0	0	0	rs763111310
14-67831583-T-C	ENST00000557310	p.Tyr33Tyr	Synonymous Variant	0	0	0	rs147827666
14-67831603-A-G	ENST00000557310	p.Asn40Ser	Missense Variant	1	31388	0.000032	rs766451703
14-67831606-A-G	ENST00000557310	p.Asn41Ser	Missense Variant	0	0	0	rs1342925324
14-67831608-A-G	ENST00000557310	p.Ile42Val	Missense Variant	0	0	0	rs751635358

Showing 1 to 20 of 111 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00575	S1	S1 RNA binding domain	14-88	CL0021	OB	Mus musculus
PF07541	EIF_2_alpha	Eukaryotic translation initiation factor 2 alpha subunit	130-244			Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Alzheimer's Disease	Nervous System Diseases ; Mental Disorders ;	0.598	0.517
Cognition Disorders	Mental Disorders ;	0.598	0.517
Presenile dementia	Nervous System Diseases ; Mental Disorders ;	0.598	0.517
Nerve Degeneration	Pathological Conditions, Signs and Symptoms ;	0.598	0.517
Osteosarcoma	Neoplasms ;	0.598	0.517
Schizophrenia	Mental Disorders ;	0.598	0.517
Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.598	0.517
Petit mal status	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.598	0.517
Familial Alzheimer Disease (FAD)	Nervous System Diseases ; Mental Disorders ;	0.598	0.517
Grand Mal Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.598	0.517
Complex Partial Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.598	0.517
Alzheimer Disease, Late Onset	Nervous System Diseases ; Mental Disorders ;	0.598	0.517
Acute Confusional Senile Dementia	Nervous System Diseases ; Mental Disorders ;	0.598	0.517
Alzheimer's Disease, Focal Onset	Nervous System Diseases ; Mental Disorders ;	0.598	0.517
Alzheimer Disease, Early Onset	Nervous System Diseases ; Mental Disorders ;	0.598	0.517
Status Epilepticus, Subclinical	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.598	0.517
Non-Convulsive Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.598	0.517
Simple Partial Status Epilepticus	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ;	0.598	0.517
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data