Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999985562699 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM003315)
  • known disease mutation at this position (HGMD CM060999)
  • known disease mutation at this position (HGMD CM940784)
  • known disease mutation: rs13265 (pathogenic)
  • protein features (might be) affected
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276856G>CN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000357555
Genbank transcript ID NM_001144915
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.794C>G
cDNA.1113C>G
g.81117C>G
AA changes S265C Score: 112 explain score(s)
position(s) of altered AA
if AA alteration in CDS
265
frameshift no
known variant Reference ID: rs121918490
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13265 (pathogenic for Crouzon syndrome|Inborn genetic diseases|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM003315)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060999)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940784)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.5921
6.2681
(flanking)1.6331
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      265LAGNSIGISFHSAWLTVLPAPGRE
mutated  not conserved    265LAGNSIGISFHCAWLTVLPAPGR
Ptroglodytes  all identical  ENSPTRG00000003003  354KVSNYIGQANQSAWLTVLPKQQA
Mmulatta  all identical  ENSMMUG00000009594  201KVSNYIGQANQSAWLTVLPKQQAPGR
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  373LAGNSIGISFHSAWLTVLPAPVR
Ggallus  all conserved  ENSGALG00000009495  361LAGNSIGISFHTAWLTVLPAP
Trubripes  all identical  ENSTRUG00000017610  354KVSNYIGEASQSGWLTVIPE--
Drerio  all conserved  ENSDARG00000058115  377TAWLTVHPAETN
Dmelanogaster  all conserved  FBgn0010389  289VESNSLGQSNSTAYLRVVRSLH
Celegans  all conserved  F58A3.2  497LSGNSLGMSMANATLTVNEFMAIHLLTGD
Xtropicalis  all identical  ENSXETG00000015592  366IAGNSIGISQHSAWLTVHPATVS
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
265265CARBOHYDN-linked (GlcNAc...) (Potential).lost
265265MUTAGENN->Q: Reduced N-glycosylation. Reduced expression at the cell surface.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2124 / 2124
position (AA) of stopcodon in wt / mu AA sequence 708 / 708
position of stopcodon in wt / mu cDNA 2443 / 2443
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 320 / 320
chromosome 10
strand -1
last intron/exon boundary 2354
theoretical NMD boundary in CDS 1984
length of CDS 2124
coding sequence (CDS) position 794
cDNA position
(for ins/del: last normal base / first normal base)
1113
gDNA position
(for ins/del: last normal base / first normal base)
81117
chromosomal position
(for ins/del: last normal base / first normal base)
123276856
original gDNA sequence snippet TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC
altered gDNA sequence snippet TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC
original cDNA sequence snippet TATTGGGATATCCTTTCACTCTGCATGGTTGACAGTTCTGC
altered cDNA sequence snippet TATTGGGATATCCTTTCACTGTGCATGGTTGACAGTTCTGC
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN
NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV
RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV
VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKAAGVNT TDKEIEVLYI
RNVTFEDAGE YTCLAGNSIG ISFHSAWLTV LPAPGREKEI TASPDYLEIA IYCIGVFLIA
CMVVTVILCR MKNTTKKPDF SSQPAVHKLT KRIPLRRQVT VSAESSSSMN SNTPLVRITT
RLSSTADTPM LAGVSEYELP EDPKWEFPRD KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK
EAVTVAVKML KDDATEKDLS DLVSEMEMMK MIGKHKNIIN LLGACTQDGP LYVIVEYASK
GNLREYLRAR RPPGMEYSYD INRVPEEQMT FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA
RNVLVTENNV MKIADFGLAR DINNIDYYKK TTNGRLPVKW MAPEALFDRV YTHQSDVWSF
GVLMWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT NELYMMMRDC WHAVPSQRPT
FKQLVEDLDR ILTLTTNEEE KKVSGAVDCH KPPCNPSHLP CVLAVDQ*
mutated AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEDAIS SGDDEDDTDG AEDFVSENSN
NKRAPYWTNT EKMEKRLHAV PAANTVKFRC PAGGNPMPTM RWLKNGKEFK QEHRIGGYKV
RNQHWSLIME SVVPSDKGNY TCVVENEYGS INHTYHLDVV ERSPHRPILQ AGLPANASTV
VGGDVEFVCK VYSDAQPHIQ WIKHVEKNGS KYGPDGLPYL KVLKAAGVNT TDKEIEVLYI
RNVTFEDAGE YTCLAGNSIG ISFHCAWLTV LPAPGREKEI TASPDYLEIA IYCIGVFLIA
CMVVTVILCR MKNTTKKPDF SSQPAVHKLT KRIPLRRQVT VSAESSSSMN SNTPLVRITT
RLSSTADTPM LAGVSEYELP EDPKWEFPRD KLTLGKPLGE GCFGQVVMAE AVGIDKDKPK
EAVTVAVKML KDDATEKDLS DLVSEMEMMK MIGKHKNIIN LLGACTQDGP LYVIVEYASK
GNLREYLRAR RPPGMEYSYD INRVPEEQMT FKDLVSCTYQ LARGMEYLAS QKCIHRDLAA
RNVLVTENNV MKIADFGLAR DINNIDYYKK TTNGRLPVKW MAPEALFDRV YTHQSDVWSF
GVLMWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT NELYMMMRDC WHAVPSQRPT
FKQLVEDLDR ILTLTTNEEE KKVSGAVDCH KPPCNPSHLP CVLAVDQ*
speed 0.52 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