Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950468)
  • known disease mutation at this position (HGMD CP995087)
  • known disease mutation: rs13275 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276891G>CN/A show variant in all transcripts   IGV
HGNC symbol FGFR2
Ensembl transcript ID ENST00000346997
Genbank transcript ID N/A
UniProt peptide P21802
alteration type single base exchange
alteration region CDS
DNA changes c.1026C>G
cDNA.1038C>G
g.81082C>G
AA changes C342W Score: 215 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 342
frameshift no
known variant Reference ID: rs121918496
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs13275 (pathogenic for Crouzon syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950468)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950468)
known disease mutation at this position, please check HGMD for details (HGMD ID CP995087)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950468)
known disease mutation at this position, please check HGMD for details (HGMD ID CP995087)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950468)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950468)
known disease mutation at this position, please check HGMD for details (HGMD ID CP995087)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950468)
known disease mutation at this position, please check HGMD for details (HGMD ID CP995087)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.9671
3.5051
(flanking)6.2681
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 59
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      342NVTFEDAGEYTCLAGNSIGISFHS
mutated  not conserved    342NVTFEDAGEYTWLAGNSIGISFH
Ptroglodytes  all identical  ENSPTRG00000003003  342NVTEADAGEYICKVSNYIGQANQ
Mmulatta  all identical  ENSMMUG00000009594  189TEADAGEYICKVSNYIGQANQ
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  361NVTFEDAGEYTCLAGNSIGISFH
Ggallus  all identical  ENSGALG00000009495  349NVTFEDAGEYTCLAGNSIGISF
Trubripes  all identical  ENSTRUG00000017610  342NVTEEDAGEYICKVSNYIGEASQ
Drerio  all identical  ENSDARG00000058115  365NVTFEDAGEYTCLAGNSIGISYH
Dmelanogaster  all identical  FBgn0010389  283NVRMEQEGWYTCVESNSLGQSN
Celegans  all identical  F58A3.2  478NVSLDDQGIYAC
Xtropicalis  all identical  ENSXETG00000015592  354NVSFEDAGEYTCIAGNSIGISQH
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
338346STRANDlost
342342DISULFIDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2460 / 2460
position (AA) of stopcodon in wt / mu AA sequence 820 / 820
position of stopcodon in wt / mu cDNA 2472 / 2472
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 13 / 13
chromosome 10
strand -1
last intron/exon boundary 2308
theoretical NMD boundary in CDS 2245
length of CDS 2460
coding sequence (CDS) position 1026
cDNA position
(for ins/del: last normal base / first normal base)		 1038
gDNA position
(for ins/del: last normal base / first normal base)		 81082
chromosomal position
(for ins/del: last normal base / first normal base)		 123276891
original gDNA sequence snippet GACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTGG
altered gDNA sequence snippet GACGCTGGGGAATATACGTGGTTGGCGGGTAATTCTATTGG
original cDNA sequence snippet GACGCTGGGGAATATACGTGCTTGGCGGGTAATTCTATTGG
altered cDNA sequence snippet GACGCTGGGGAATATACGTGGTTGGCGGGTAATTCTATTGG
wildtype AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TCLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT
LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG
KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD
LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN
GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM
DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEQYSPS
YPDTRSSCSS GDDSVFSPDP MPYEPCLPQY PHINGSVKT*
mutated AA sequence MVSWGRFICL VVVTMATLSL ARPSFSLVED TTLEPEEPPT KYQISQPEVY VAAPGESLEV
RCLLKDAAVI SWTKDGVHLG PNNRTVLIGE YLQIKGATPR DSGLYACTAS RTVDSETWYF
MVNVTDAISS GDDEDDTDGA EDFVSENSNN KRAPYWTNTE KMEKRLHAVP AANTVKFRCP
AGGNPMPTMR WLKNGKEFKQ EHRIGGYKVR NQHWSLIMES VVPSDKGNYT CVVENEYGSI
NHTYHLDVVE RSPHRPILQA GLPANASTVV GGDVEFVCKV YSDAQPHIQW IKHVEKNGSK
YGPDGLPYLK VLKAAGVNTT DKEIEVLYIR NVTFEDAGEY TWLAGNSIGI SFHSAWLTVL
PAPGREKEIT ASPDYLEIAI YCIGVFLIAC MVVTVILCRM KNTTKKPDFS SQPAVHKLTK
RIPLRRQVSA ESSSSMNSNT PLVRITTRLS STADTPMLAG VSEYELPEDP KWEFPRDKLT
LGKPLGEGCF GQVVMAEAVG IDKDKPKEAV TVAVKMLKDD ATEKDLSDLV SEMEMMKMIG
KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLRARRPP GMEYSYDINR VPEEQMTFKD
LVSCTYQLAR GMEYLASQKC IHRDLAARNV LVTENNVMKI ADFGLARDIN NIDYYKKTTN
GRLPVKWMAP EALFDRVYTH QSDVWSFGVL MWEIFTLGGS PYPGIPVEEL FKLLKEGHRM
DKPANCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRILT LTTNEEYLDL SQPLEQYSPS
YPDTRSSCSS GDDSVFSPDP MPYEPCLPQY PHINGSVKT*
speed 1.35 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