Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.998865115100247 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:150280445C>GN/A show variant in all transcripts   IGV
HGNC symbol EIF2A
Ensembl transcript ID ENST00000406576
Genbank transcript ID N/A
UniProt peptide Q9BY44
alteration type single base exchange
alteration region CDS
DNA changes c.290C>G
cDNA.306C>G
g.15981C>G
AA changes T97S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 97
frameshift no
known variant Reference ID: rs1132979
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC79401688724827
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.5540.899
3.8481
(flanking)1.0441
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost15982sequence motif lost- wt: ACTA|gtaa
 mu: AGTA.gtaa
Donor marginally decreased15982wt: 0.9826 / mu: 0.9823 (marginal change - not scored)wt: TACACTAGTAAGTAT
mu: TACAGTAGTAAGTAT		 CACT|agta
Donor gained159800.30mu: CTTACAGTAGTAAGT TACA|gtag
distance from splice site 3
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      97KNTVLATWQPYTNTIANKLHLQKI
mutated  all conserved    97KNTVLATWQPYSNTIANKLHLQK
Ptroglodytes  not conserved  ENSPTRG00000015528  136KK--MQNWCPSWSEDETLCARSVNNEVHFFENNNFNTIANKLHLQK
Mmulatta  not conserved  ENSMMUG00000017696  158KKT--QNWCPSWSEDETLCARNVNNEVHFFENNNFNTIANKLHLQK
Fcatus  all identical  ENSFCAG00000011331  120KNTVL-TWQPYTTS
Mmusculus  not conserved  ENSMUSG00000027810  136KK--MQNWCPSWSDDEIICARNVNNEVHFFENNNFNTIANKLHLQK
Ggallus  not conserved  ENSGALG00000010401  98KNNILATWQAYSAAKDGTAGAPNLQLYDVKTGKCLKSFIQKK
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000044479  96LNKVLATWQQYTKTQDNPQGEANLQLWDLQTGACM
Dmelanogaster  not conserved  FBgn0037135  104RGSYLCTWEHYAIT
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000020093  136KK--MENWSPCWSDDESICARNVNNEVHFFENNNFDTIANKLHLQK
protein features
start (aa)end (aa)featuredetails 
125163REPEATWD 2.might get lost (downstream of altered splice site)
150150CONFLICTV -> A (in Ref. 4; AAQ13612).might get lost (downstream of altered splice site)
173173CONFLICTF -> S (in Ref. 4; AAQ13612).might get lost (downstream of altered splice site)
261261CONFLICTT -> P (in Ref. 1; AAM83402).might get lost (downstream of altered splice site)
263263CONFLICTG -> F (in Ref. 1; AAM83402).might get lost (downstream of altered splice site)
268268CONFLICTV -> L (in Ref. 1; AAM83402).might get lost (downstream of altered splice site)
292292CONFLICTY -> S (in Ref. 1; AAM83402).might get lost (downstream of altered splice site)
356401REPEATWD 3.might get lost (downstream of altered splice site)
503503MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
506506MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
512512MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
517517MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
518518MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
522522MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
531582COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1575 / 1575
position (AA) of stopcodon in wt / mu AA sequence 525 / 525
position of stopcodon in wt / mu cDNA 1591 / 1591
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 17 / 17
chromosome 3
strand 1
last intron/exon boundary 1526
theoretical NMD boundary in CDS 1459
length of CDS 1575
coding sequence (CDS) position 290
cDNA position
(for ins/del: last normal base / first normal base)		 306
gDNA position
(for ins/del: last normal base / first normal base)		 15981
chromosomal position
(for ins/del: last normal base / first normal base)		 150280445
original gDNA sequence snippet GGCAACGTGGCAGCCTTACACTAGTAAGTATTTTCTCAGTG
altered gDNA sequence snippet GGCAACGTGGCAGCCTTACAGTAGTAAGTATTTTCTCAGTG
original cDNA sequence snippet GGCAACGTGGCAGCCTTACACTAACACAATTGCAAATAAAT
altered cDNA sequence snippet GGCAACGTGGCAGCCTTACAGTAACACAATTGCAAATAAAT
wildtype AA sequence MAPSTPLLTV RGSEGLYMVN GPPHFTESTV FPRESGKNCK VCIFSKDGTL FAWGNGEKVN
IISVTNKGLL HSFDLLKAVC LEFSPKNTVL ATWQPYTNTI ANKLHLQKIN DFVLSPGPQP
YKVAVYVPGS KGAPSFVRLY QYPNFAGPHA ALANKSFFKA DKVTMLWNKK ATAVLVIAST
DVDKTGASYY GEQTLHYIAT NGESAVVQLP KNGPIYDVVW NSSSTEFCAV YGFMPAKATI
FNLKCDPVFD FGTGPRNAAY YSPHGHILVL AGFGNLRGQM EVWDVKNYKL ISKPVASDST
YFAWCPDGEH ILTATCAPRL RVNNGYKIWH YTGSILHKYD VPSNAELWQV SWQPFLDGIF
PAKTITYQAV PSEVPNEEPK VATAYRPPAL RNKPITNSKL HEEEPPQNMK PQSGNDKPLS
KTALKNQRKH EAKKAAKQEA RSDKSPDLAP TPAPQSTPRN TVSQSISGDP EIDKKIKNLK
KKLKAIEQLK EQAATGKQLE KNQLEKIQKE TALLQELEDL ELGI*
mutated AA sequence MAPSTPLLTV RGSEGLYMVN GPPHFTESTV FPRESGKNCK VCIFSKDGTL FAWGNGEKVN
IISVTNKGLL HSFDLLKAVC LEFSPKNTVL ATWQPYSNTI ANKLHLQKIN DFVLSPGPQP
YKVAVYVPGS KGAPSFVRLY QYPNFAGPHA ALANKSFFKA DKVTMLWNKK ATAVLVIAST
DVDKTGASYY GEQTLHYIAT NGESAVVQLP KNGPIYDVVW NSSSTEFCAV YGFMPAKATI
FNLKCDPVFD FGTGPRNAAY YSPHGHILVL AGFGNLRGQM EVWDVKNYKL ISKPVASDST
YFAWCPDGEH ILTATCAPRL RVNNGYKIWH YTGSILHKYD VPSNAELWQV SWQPFLDGIF
PAKTITYQAV PSEVPNEEPK VATAYRPPAL RNKPITNSKL HEEEPPQNMK PQSGNDKPLS
KTALKNQRKH EAKKAAKQEA RSDKSPDLAP TPAPQSTPRN TVSQSISGDP EIDKKIKNLK
KKLKAIEQLK EQAATGKQLE KNQLEKIQKE TALLQELEDL ELGI*
speed 0.19 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