Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999999999067 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM031990)
  • known disease mutation: rs16251 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:49190405G>TN/A show variant in all transcripts   IGV
HGNC symbol FSHR
Ensembl transcript ID ENST00000304421
Genbank transcript ID NM_181446
UniProt peptide P23945
alteration type single base exchange
alteration region CDS
DNA changes c.1477C>A
cDNA.1541C>A
g.191272C>A
AA changes P493T Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 493
frameshift no
known variant Reference ID: rs121909662
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs16251 (pathogenic for Ovarian dysgenesis 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM031990)

known disease mutation at this position, please check HGMD for details (HGMD ID CM031990)
known disease mutation at this position, please check HGMD for details (HGMD ID CM031990)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)5.9131
5.9131
(flanking)1.6861
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 636
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      493ISSYMKVSICLPMDIDSPLSQLYV
mutated  not conserved    493ISSYMKVSICLTMDIDSPLSQLY
Ptroglodytes  all identical  ENSPTRG00000011914  519ISSYMKVSICLPMDIDSPLSQLY
Mmulatta  all identical  ENSMMUG00000017196  519ISSYMKVSICLPMDIDSPLSQLY
Fcatus  all identical  ENSFCAG00000001215  519ISSYMKVSICLPMDIDSPLSQLY
Mmusculus  all identical  ENSMUSG00000032937  518ISSYMKVSICLPMDIDSPLSQLY
Ggallus  all identical  ENSGALG00000009100  519ISSYMKVSICLPMHIETPFSQAY
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000071494  500VSSYSKTSICLPMDVETLLSQGY
Dmelanogaster  all identical  FBgn0016650  646PMENRDVYDTIY
Celegans  all identical  C50H2.1  587VSSYSESSVCLPLRAATIFDKSY
Xtropicalis  all identical  ENSXETG00000025827  421PMDIENPLSQAY
protein features
start (aa)end (aa)featuredetails 
486508TRANSMEMHelical; Name=4; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2010 / 2010
position (AA) of stopcodon in wt / mu AA sequence 670 / 670
position of stopcodon in wt / mu cDNA 2074 / 2074
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 65 / 65
chromosome 2
strand -1
last intron/exon boundary 841
theoretical NMD boundary in CDS 726
length of CDS 2010
coding sequence (CDS) position 1477
cDNA position
(for ins/del: last normal base / first normal base)		 1541
gDNA position
(for ins/del: last normal base / first normal base)		 191272
chromosomal position
(for ins/del: last normal base / first normal base)		 49190405
original gDNA sequence snippet TGAAGGTGAGCATCTGCCTGCCCATGGATATTGACAGCCCT
altered gDNA sequence snippet TGAAGGTGAGCATCTGCCTGACCATGGATATTGACAGCCCT
original cDNA sequence snippet TGAAGGTGAGCATCTGCCTGCCCATGGATATTGACAGCCCT
altered cDNA sequence snippet TGAAGGTGAGCATCTGCCTGACCATGGATATTGACAGCCCT
wildtype AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLW LNKNGIQEIH NCAFNGTQLD ELNLSDNNNL
EELPNDVFHG ASGPVILDIS RTRIHSLPSY GLENLKKLRA RSTYNLKKLP TLEKLVALME
ASLTYPSHCC AFANWRRQIS ELHPICNKSI LRQEVDYMTQ ARGQRSSLAE DNESSYSRGF
DMTYTEFDYD LCNEVVDVTC SPKPDAFNPC EDIMGYNILR VLIWFISILA ITGNIIVLVI
LTTSQYKLTV PRFLMCNLAF ADLCIGIYLL LIASVDIHTK SQYHNYAIDW QTGAGCDAAG
FFTVFASELS VYTLTAITLE RWHTITHAMQ LDCKVQLRHA ASVMVMGWIF AFAAALFPIF
GISSYMKVSI CLPMDIDSPL SQLYVMSLLV LNVLAFVVIC GCYIHIYLTV RNPNIVSSSS
DTRIAKRMAM LIFTDFLCMA PISFFAISAS LKVPLITVSK AKILLVLFHP INSCANPFLY
AIFTKNFRRD FFILLSKCGC YEMQAQIYRT ETSSTVHNTH PRNGHCSSAP RVTSGSTYIL
VPLSHLAQN*
mutated AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLW LNKNGIQEIH NCAFNGTQLD ELNLSDNNNL
EELPNDVFHG ASGPVILDIS RTRIHSLPSY GLENLKKLRA RSTYNLKKLP TLEKLVALME
ASLTYPSHCC AFANWRRQIS ELHPICNKSI LRQEVDYMTQ ARGQRSSLAE DNESSYSRGF
DMTYTEFDYD LCNEVVDVTC SPKPDAFNPC EDIMGYNILR VLIWFISILA ITGNIIVLVI
LTTSQYKLTV PRFLMCNLAF ADLCIGIYLL LIASVDIHTK SQYHNYAIDW QTGAGCDAAG
FFTVFASELS VYTLTAITLE RWHTITHAMQ LDCKVQLRHA ASVMVMGWIF AFAAALFPIF
GISSYMKVSI CLTMDIDSPL SQLYVMSLLV LNVLAFVVIC GCYIHIYLTV RNPNIVSSSS
DTRIAKRMAM LIFTDFLCMA PISFFAISAS LKVPLITVSK AKILLVLFHP INSCANPFLY
AIFTKNFRRD FFILLSKCGC YEMQAQIYRT ETSSTVHNTH PRNGHCSSAP RVTSGSTYIL
VPLSHLAQN*
speed 1.26 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