ConVarT

ClinVar Data

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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

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
14-67831488-C-T	ENST00000256383	p.Pro2Ser	Missense Variant	0	0	0	rs1277999711
14-67831488-C-T	ENST00000466499	p.Pro2Ser	Missense Variant	0	0	0	rs1277999711
14-67831489-C-G	ENST00000256383	p.Pro2Arg	Missense Variant	0	0	0	rs559407878
14-67831489-C-G	ENST00000466499	p.Pro2Arg	Missense Variant	0	0	0	rs559407878
14-67831490-G-A	ENST00000256383	p.Pro2Pro	Synonymous Variant	1	31364	0.000032	rs374574823
14-67831490-G-A	ENST00000466499	p.Pro2Pro	Synonymous Variant	1	31364	0.000032	rs374574823
14-67831491-G-A	ENST00000256383	p.Gly3Ser	Missense Variant	0	0	0	rs1258710396
14-67831491-G-A	ENST00000466499	p.Gly3Ser	Missense Variant	0	0	0	rs1258710396
14-67831496-A-G	ENST00000256383	p.Leu4Leu	Synonymous Variant	0	0	0	rs769198766
14-67831496-A-G	ENST00000466499	p.Leu4Leu	Synonymous Variant	0	0	0	rs769198766
14-67831497-A-C	ENST00000256383	p.Ser5Arg	Missense Variant	0	0	0	rs776915139
14-67831497-A-C	ENST00000466499	p.Ser5Arg	Missense Variant	0	0	0	rs776915139
14-67831506-T-G	ENST00000256383	p.Phe8Val	Missense Variant	0	0	0	rs770040509
14-67831506-T-G	ENST00000466499	p.Phe8Val	Missense Variant	0	0	0	rs770040509
14-67831513-A-G	ENST00000256383	p.Gln10Arg	Missense Variant	0	0	0	rs1158700110
14-67831513-A-G	ENST00000466499	p.Gln10Arg	Missense Variant	0	0	0	rs1158700110
14-67831516-A-G	ENST00000256383	p.His11Arg	Missense Variant	0	0	0	rs144522814
14-67831516-A-G	ENST00000466499	p.His11Arg	Missense Variant	0	0	0	rs144522814
14-67831519-A-C	ENST00000256383	p.Lys12Thr	Missense Variant	0	0	0	rs1423824616
14-67831519-A-C	ENST00000466499	p.Lys12Thr	Missense Variant	0	0	0	rs1423824616

Showing 1 to 20 of 262 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
EIF2S1	P05198	Ubiquitination	101	K101-ub	EAIkCEDkFTkSkTV	36.11	27188037
EIF2S1	P05198	Acetylation	101	K101-ac	EAIkCEDkFTkSkTV	36.11	15294200
EIF2S1	P05198	Ubiquitination	104	K104-ub	kCEDkFTkSkTVYsI	36.11	12093573
EIF2S1	P05198	Ubiquitination	106	K106-ub	EDkFTkSkTVYsILR	36.11	12104859
EIF2S1	P05198	Phosphorylation	110	S110-p	TkSkTVYsILRHVAE	36.11	27447992
EIF2S1	P05198	Ubiquitination	12	K12-ub	SCRFYQHkFPEVEDV	36.11	573760494
EIF2S1	P05198	Ubiquitination	123	K123-ub	AEVLEYTkDEQLESL	36.11	12113687
EIF2S1	P05198	Methylation	133	R133-m1	QLESLFQrTAWVFDD	36.11	57736790
EIF2S1	P05198	Ubiquitination	141	K141-ub	TAWVFDDkYkRPGyG	36.11	15490740
EIF2S1	P05198	Acetylation	141	K141-ac	TAWVFDDkYkRPGyG	36.11	11324636
EIF2S1	P05198	Ubiquitination	143	K143-ub	WVFDDkYkRPGyGAy	36.11	12104059
EIF2S1	P05198	Acetylation	143	K143-ac	WVFDDkYkRPGyGAy	36.11	63112800
EIF2S1	P05198	Phosphorylation	147	Y147-p	DkYkRPGyGAyDAFk	36.11	460456
EIF2S1	P05198	Phosphorylation	150	Y150-p	kRPGyGAyDAFkHAV	36.11	460495
EIF2S1	P05198	Ubiquitination	154	K154-ub	yGAyDAFkHAVsDPS	36.11	21173674
EIF2S1	P05198	Methylation	154	K154-m1	yGAyDAFkHAVsDPS	36.11	57984360
EIF2S1	P05198	Phosphorylation	158	S158-p	DAFkHAVsDPSILDS	36.11	4694243
EIF2S1	P05198	Phosphorylation	185	T185-p	NNINRRLtPQAVkIR	36.11	9299765
EIF2S1	P05198	Ubiquitination	190	K190-ub	RLtPQAVkIRADIEV	36.11	21173672
EIF2S1	P05198	Phosphorylation	200	Y200-p	ADIEVACyGyEGIDA	36.11	15561227

Showing 1 to 20 of 45 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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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
EIF2S1	ENST00000256383	511C	thyroid	carcinoma	22333255	c.445G>T	p.A149S	Substitution - Missense	PATHOGENIC	.99606	Confirmed somatic variant	PMID: N/A	primary	149
EIF2S1	ENST00000256383	2834130	skin	malignant_melanoma	22332788	c.281A>G	p.E94G	Substitution - Missense	PATHOGENIC	.99434	Variant of unknown origin	PMID: 28296713	primary	94
EIF2S1	ENST00000256383	2834130	skin	malignant_melanoma	22332785	c.265A>T	p.R89*	Substitution - Nonsense	PATHOGENIC	.99599	Variant of unknown origin	PMID: 28296713	primary	89
EIF2S1	ENST00000256383	ESO-859	oesophagus	carcinoma	22333008	c.4C>T	p.P2S	Substitution - Missense	PATHOGENIC	.97382	Reported in another cancer sample as somatic	PMID: 23525077	primary	2
EIF2S1	ENST00000256383	PD26693a	skin	malignant_melanoma	22334072	c.30A>G	p.Q10=	Substitution - coding silent		.63393	Confirmed somatic variant	PMID: 30664638	primary	10
EIF2S1	ENST00000256383	T2423	large_intestine	carcinoma	22333008	c.4C>T	p.P2S	Substitution - Missense	PATHOGENIC	.97382	Confirmed somatic variant	PMID: 27149842	NS	2
EIF2S1	ENST00000256383	TCGA-CR-7395-01	upper_aerodigestive_tract	carcinoma	22333494	c.701G>T	p.R234L	Substitution - Missense	PATHOGENIC	.99541	Confirmed somatic variant	PMID: N/A	NS	234
EIF2S1	ENST00000256383	PCSI_0085_Pa_P_526	pancreas	carcinoma	22332800	c.-2+1562C>T	p.?	Unknown	NEUTRAL	.00079	Confirmed somatic variant	PMID: N/A	primary	0
EIF2S1	ENST00000256383	PD4130a	breast	carcinoma	22334279	c.662A>G	p.E221G	Substitution - Missense	PATHOGENIC	.99477	Confirmed somatic variant	PMID: 22722201	primary	221
EIF2S1	ENST00000256383	TCGA-BG-A221-01	endometrium	carcinoma	22332880	c.*343C>T	p.?	Unknown	PATHOGENIC	.80502	Confirmed somatic variant	PMID: N/A	NS	0
EIF2S1	ENST00000256383	PD5942a	breast	carcinoma	22333615	c.321+575A>G	p.?	Unknown	NEUTRAL	.02964	Confirmed somatic variant	PMID: N/A	primary	0
EIF2S1	ENST00000256383	TCGA-AP-A1E0-01	endometrium	carcinoma	22333308	c.337C>T	p.R113C	Substitution - Missense	PATHOGENIC	.9539	Confirmed somatic variant	PMID: N/A	NS	113
EIF2S1	ENST00000256383	HN_63080	upper_aerodigestive_tract	carcinoma	22333967	c.43G>C	p.E15Q	Substitution - Missense	PATHOGENIC	.98711	Variant of unknown origin	PMID: 21798893	primary	15
EIF2S1	ENST00000256383	8065650	pancreas	carcinoma	22332887	c.473+14C>A	p.?	Unknown		.54148	Confirmed somatic variant	PMID: N/A	NS	0
EIF2S1	ENST00000256383	TCGA-CF-A9FM-01	urinary_tract	carcinoma	22333804	c.631G>C	p.A211P	Substitution - Missense	PATHOGENIC	.99636	Confirmed somatic variant	PMID: N/A	primary	211
EIF2S1	ENST00000256383	TCGA-DK-AA6R-01	urinary_tract	carcinoma	22333553	c.415G>A	p.D139N	Substitution - Missense	PATHOGENIC	.99637	Confirmed somatic variant	PMID: N/A	primary	139
EIF2S1	ENST00000256383	ML_77_T_01	skin	carcinoma	22333606	c.*2218C>T	p.?	Unknown	NEUTRAL	.00279	Confirmed somatic variant	PMID: N/A	primary	0
EIF2S1	ENST00000256383	PET124T	pancreas	carcinoid-endocrine_tumour	22332776	c.241+3557G>T	p.?	Unknown	NEUTRAL	.03527	Confirmed somatic variant	PMID: N/A	primary	0
EIF2S1	ENST00000256383	S00936	lung	carcinoma	22333081	c.911A>G	p.D304G	Substitution - Missense	PATHOGENIC	.99224	Variant of unknown origin	PMID: 22941188	NS	304
EIF2S1	ENST00000256383	T197	large_intestine	carcinoma	22334042	c.671C>T	p.P224L	Substitution - Missense	PATHOGENIC	.99186	Confirmed somatic variant	PMID: 27149842	NS	224

Showing 1 to 20 of 175 entries

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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	Homo sapiens
PF07541	EIF_2_alpha	Eukaryotic translation initiation factor 2 alpha subunit	130-244			Homo sapiens

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

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:	ClinVar(1) gnomAD(262) COSMIC(175) PTM(45)

Classification of Clinicial Significance of ClinVar Data