Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.860189581135203 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM054795)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:32453358G>AN/A show variant in all transcripts   IGV
HGNC symbol NRG1
Ensembl transcript ID ENST00000287840
Genbank transcript ID NM_013964
UniProt peptide Q02297
alteration type single base exchange
alteration region CDS
DNA changes c.113G>A
cDNA.630G>A
g.956457G>A
AA changes R38Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 38
frameshift no
known variant Reference ID: rs3924999
databasehomozygous (A/A)heterozygousallele carriers
1000G5318671398
ExAC104161193522351

known disease mutation at this position, please check HGMD for details (HGMD ID CM054795)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8950.982
2.2861
(flanking)0.7321
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased956457wt: 0.9581 / mu: 0.9697 (marginal change - not scored)wt: TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
mu: TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC		 cccg|ATTG
Acc marginally increased956448wt: 0.9609 / mu: 0.9706 (marginal change - not scored)wt: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGA
mu: CTCTTTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGA		 cctt|GCCT
Acc marginally increased956452wt: 0.8266 / mu: 0.8304 (marginal change - not scored)wt: TTTCTTCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAA
mu: TTTCTTCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAA		 gcct|CCCC
Acc increased956460wt: 0.61 / mu: 0.77wt: TTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCCAGG
mu: TTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCCAGG		 gatt|GAAA
Donor increased956458wt: 0.72 / mu: 0.87wt: CCCCGATTGAAAGAG
mu: CCCCAATTGAAAGAG		 CCGA|ttga
Donor increased956459wt: 0.56 / mu: 0.86wt: CCCGATTGAAAGAGA
mu: CCCAATTGAAAGAGA		 CGAT|tgaa
Donor gained9564530.43mu: TGCCTCCCCAATTGA CCTC|ccca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      38AAGSQSPALPPRLKEMKSQESAAG
mutated  all conserved    38AAGSQSPALPPQLKEMKSQESAA
Ptroglodytes  all identical  ENSPTRG00000020146  38AAGSQSPALPPRLKEMKSQESAA
Mmulatta  all identical  ENSMMUG00000000208  38AAGSHSPALPPRLKEMKSQESAA
Fcatus  all identical  ENSFCAG00000014970  4LPPRLKEMRSQESVA
Mmusculus  no alignment  ENSMUSG00000062991  n/a
Ggallus  no alignment  ENSGALG00000015422  n/a
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000068458  162PKLKNLRSVTVED
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no alignment  ENSXETG00000017504  n/a
protein features
start (aa)end (aa)featuredetails 
20242TOPO_DOMExtracellular (Potential).lost
37128DOMAINIg-like C2-type.lost
5757DISULFIDBy similarity.might get lost (downstream of altered splice site)
9494CONFLICTK -> A (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
107107CONFLICTS -> P (in Ref. 9; ABQ53539).might get lost (downstream of altered splice site)
112112DISULFIDBy similarity.might get lost (downstream of altered splice site)
120120CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
126126CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
164164CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
165177COMPBIASSer/Thr-rich.might get lost (downstream of altered splice site)
178181STRANDmight get lost (downstream of altered splice site)
178222DOMAINEGF-like.might get lost (downstream of altered splice site)
182182DISULFIDmight get lost (downstream of altered splice site)
184187HELIXmight get lost (downstream of altered splice site)
190190DISULFIDmight get lost (downstream of altered splice site)
190193STRANDmight get lost (downstream of altered splice site)
195205STRANDmight get lost (downstream of altered splice site)
196196DISULFIDmight get lost (downstream of altered splice site)
208211STRANDmight get lost (downstream of altered splice site)
210210DISULFIDmight get lost (downstream of altered splice site)
212212DISULFIDmight get lost (downstream of altered splice site)
216218STRANDmight get lost (downstream of altered splice site)
221221DISULFIDmight get lost (downstream of altered splice site)
233235STRANDmight get lost (downstream of altered splice site)
243265TRANSMEMHelical; Note=Internal signal sequence; (Potential).might get lost (downstream of altered splice site)
261261CONFLICTV -> L (in Ref. 9; ABQ53540).might get lost (downstream of altered splice site)
266640TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
414414CONFLICTS -> F (in Ref. 2; AAA19953).might get lost (downstream of altered splice site)
535535CONFLICTQ -> R (in Ref. 2; AAA19951).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1923 / 1923
position (AA) of stopcodon in wt / mu AA sequence 641 / 641
position of stopcodon in wt / mu cDNA 2440 / 2440
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 518 / 518
chromosome 8
strand 1
last intron/exon boundary 1786
theoretical NMD boundary in CDS 1218
length of CDS 1923
coding sequence (CDS) position 113
cDNA position
(for ins/del: last normal base / first normal base)		 630
gDNA position
(for ins/del: last normal base / first normal base)		 956457
chromosomal position
(for ins/del: last normal base / first normal base)		 32453358
original gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered gDNA sequence snippet TCTTTTAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
original cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCGATTGAAAGAGATGAAAAGCC
altered cDNA sequence snippet GAGCCCAGCCTTGCCTCCCCAATTGAAAGAGATGAAAAGCC
wildtype AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPRLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQEKAEELYQ
KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM NIANGPHHPN
PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT PSHSWSNGHT
ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE TPDSYRDSPH
SERYVSAMTT PARMSPVDFH TPSSPKSPPS EMSPPVSSMT VSMPSMAVSP FMEEERPLLL
VTPPRLREKK FDHHPQQFSS FHHNPAHDSN SLPASPLRIV EDEEYETTQE YEPAQEPVKK
LANSRRAKRT KPNGHIANRL EVDSNTSSQS SNSESETEDE RVGEDTPFLG IQNPLAASLE
ATPAFRLADS RTNPAGRFST QEEIQARLSS VIANQDPIAV *
mutated AA sequence MSERKEGRGK GKGKKKERGS GKKPESAAGS QSPALPPQLK EMKSQESAAG SKLVLRCETS
SEYSSLRFKW FKNGNELNRK NKPQNIKIQK KPGKSELRIN KASLADSGEY MCKVISKLGN
DSASANITIV ESNEIITGMP ASTEGAYVSS ESPIRISVST EGANTSSSTS TSTTGTSHLV
KCAEKEKTFC VNGGECFMVK DLSNPSRYLC KCQPGFTGAR CTENVPMKVQ NQEKAEELYQ
KRVLTITGIC IALLVVGIMC VVAYCKTKKQ RKKLHDRLRQ SLRSERNNMM NIANGPHHPN
PPPENVQLVN QYVSKNVISS EHIVEREAET SFSTSHYTST AHHSTTVTQT PSHSWSNGHT
ESILSESHSV IVMSSVENSR HSSPTGGPRG RLNGTGGPRE CNSFLRHARE TPDSYRDSPH
SERYVSAMTT PARMSPVDFH TPSSPKSPPS EMSPPVSSMT VSMPSMAVSP FMEEERPLLL
VTPPRLREKK FDHHPQQFSS FHHNPAHDSN SLPASPLRIV EDEEYETTQE YEPAQEPVKK
LANSRRAKRT KPNGHIANRL EVDSNTSSQS SNSESETEDE RVGEDTPFLG IQNPLAASLE
ATPAFRLADS RTNPAGRFST QEEIQARLSS VIANQDPIAV *
speed 1.10 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