Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999859369703 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM950467)
  • known disease mutation: rs13274 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr10:123276896T>GN/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.1021A>C
cDNA.1033A>C
g.81077A>C
AA changes T341P Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 341
frameshift no
known variant Reference ID: rs121918495
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation: rs13274 (pathogenic for Pfeiffer syndrome|FGFR2 related craniosynostosis) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)

known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
known disease mutation at this position, please check HGMD for details (HGMD ID CM950467)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.2681
5.1771
(flanking)1.0461
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 64
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      341RNVTFEDAGEYTCLAGNSIGISFH
mutated  not conserved    341RNVTFEDAGEYPCLAGNSIGISF
Ptroglodytes  not conserved  ENSPTRG00000003003  341-NVTEADAGEYICKVSNYIGQAN
Mmulatta  not conserved  ENSMMUG00000009594  188TEADAGEYICKVSNYIGQAN
Fcatus  no alignment  ENSFCAG00000003692  n/a
Mmusculus  all identical  ENSMUSG00000030849  360RNVTFEDAGEYTCLAGNSIGISF
Ggallus  all identical  ENSGALG00000009495  348RNVTFEDAGEYTCLAGNSIGISF
Trubripes  not conserved  ENSTRUG00000017610  341TNVTEEDAGEYICKVSNYIGEAS
Drerio  all identical  ENSDARG00000058115  364PNVTFEDAGEYTCLAGNSIGISY
Dmelanogaster  all identical  FBgn0010389  282VNVRMEQEGWYTCVESNSLGQSN
Celegans  not conserved  F58A3.2  477FNVSLDDQGIYAC
Xtropicalis  all identical  ENSXETG00000015592  353RNVSFEDAGEYTCIAGNSIGISQ
protein features
start (aa)end (aa)featuredetails 
22377TOPO_DOMExtracellular (Potential).lost
256358DOMAINIg-like C2-type 3.lost
338346STRANDlost
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 1021
cDNA position
(for ins/del: last normal base / first normal base)		 1033
gDNA position
(for ins/del: last normal base / first normal base)		 81077
chromosomal position
(for ins/del: last normal base / first normal base)		 123276896
original gDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered gDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
original cDNA sequence snippet TTGAGGACGCTGGGGAATATACGTGCTTGGCGGGTAATTCT
altered cDNA sequence snippet TTGAGGACGCTGGGGAATATCCGTGCTTGGCGGGTAATTCT
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 PCLAGNSIGI 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 1.00 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