mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway) (explain)

Summary

known disease mutation at this position (HGMD CM022481)
known disease mutation: rs2130 (pathogenic)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:183963586A>GN/A show variant in all transcripts IGV

HGNC symbol

EIF2B5

Ensembl transcript ID

ENST00000444495

Genbank transcript ID

N/A

UniProt peptide

Q13144

alteration type

single base exchange

alteration region

intron

DNA changes

g.110761A>G

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs119103237
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs2130 (pathogenic for ALG3-CDG) dbSNP NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM022481)

known disease mutation at this position, please check HGMD for details (HGMD ID CM022481)
known disease mutation at this position, please check HGMD for details (HGMD ID CM022481)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.095	1
	4.222	1
(flanking)	3.371	1

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc marginally increased	110751	wt: 0.7591 / mu: 0.8285 (marginal change - not scored)	wt: CGCCTTCTACCTCGGCCATGTAGGCCTTCCAGTCAATCTCT mu: CGCCTTCTACCTCGGCCATGTAGGCCTTCCGGTCAATCTCT	atgt\|AGGC
Acc increased	110771	wt: 0.38 / mu: 0.53	wt: TAGGCCTTCCAGTCAATCTCTGTGTCTGGAAGAAGACAAGA mu: TAGGCCTTCCGGTCAATCTCTGTGTCTGGAAGAAGACAAGA	ctct\|GTGT
Acc increased	110753	wt: 0.25 / mu: 0.45	wt: CCTTCTACCTCGGCCATGTAGGCCTTCCAGTCAATCTCTGT mu: CCTTCTACCTCGGCCATGTAGGCCTTCCGGTCAATCTCTGT	gtag\|GCCT

distance from splice site

99999

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
543	720	DOMAIN	W2.	might get lost (downstream of altered splice site)
701	714	HELIX		might get lost (downstream of altered splice site)
717	717	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
718	718	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

11 / 11

chromosome

strand

last intron/exon boundary

2117

theoretical NMD boundary in CDS

2056

length of CDS

2118

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

110761

chromosomal position
(for ins/del: last normal base / first normal base)

183963586

original gDNA sequence snippet

CTCGGCCATGTAGGCCTTCCAGTCAATCTCTGTGTCTGGAA

altered gDNA sequence snippet

CTCGGCCATGTAGGCCTTCCGGTCAATCTCTGTGTCTGGAA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAAPVVAPPG VVVSRANKRS GAGPGGSGGG GARGAEEEPP PPLQAVLVAD SFDRRFFPIS
KDQPRVLLPL ANVALIDYTL EFLTATGVQE TFVFCCWKAA QIKEHLLKSK WCRPTSLNVV
RIITSELYRS LGDVLRDVDA KALVRSDFLL VYGDVISNIN ITRALEEHRL RRKLEKNVSV
MTMIFKESSP SHPTRCHEDN VVVAVDSTTN RVLHFQKTQG LRRFAFPLSL FQGSSDGVEV
RYDLLDCHIS ICSPQVAQLF TDNFDYQTRD DFVRGLLVNE EILGNQIHMH VTAKEYGARV
SNLHMYSAVC ADVIRRWVYP LTPEANFTDS TTQSCTHSRH NIYRGPEVSL GHGSILEENV
LLGSGTVIGS NCFITNSVIG PGCHIGDNVV LDQTYLWQGV RVAAGAQIHQ SLLCDNAEVK
ERVTLKPRSV LTSQVVVGPN ITLPEGSVIS LHPPDAEEDE DDGEFSDDSG ADQEKDKVKM
KGYNPAEVGA AGKGYLWKAA GMNMEEEEEL QQNLWGLKIN MEEESESESE QSMDSEEPDS
RGGSPQMDDI KVFQNEVLGT LQRGKEENIS CDNLVLEINS LKYAYNISLK EVMQVLSHVV
LEFPLQQMDS PLDSSRYCAL LLPLLKAWSP VFRNYIKRAA DHLEALAAIE DFFLEHEALG
ISMAKVLMAF YQLEILAEET ILSWFSQRDT TDKGQQLRKN QQVVC*

mutated AA sequence

N/A

speed

1.04 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project