Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.99999951017528 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM041006)
  • known disease mutation: rs16252 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:49190615T>CN/A show variant in all transcripts   IGV
HGNC symbol FSHR
Ensembl transcript ID ENST00000346173
Genbank transcript ID N/A
UniProt peptide P23945
alteration type single base exchange
alteration region CDS
DNA changes c.1159A>G
cDNA.1269A>G
g.191062A>G
AA changes T387A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 387
frameshift no
known variant Reference ID: rs121909663
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation: rs16252 (pathogenic for Ovarian hyperstimulation syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM041006)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041006)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041006)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)5.9771
2.2961
(flanking)1.1221
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased191069wt: 0.73 / mu: 0.80wt: TGCTGGCTTTTTCACTGTCTTTGCCAGTGAGCTGTCAGTCT
mu: TGCTGGCTTTTTCGCTGTCTTTGCCAGTGAGCTGTCAGTCT		 tctt|TGCC
Acc marginally increased191071wt: 0.8714 / mu: 0.9144 (marginal change - not scored)wt: CTGGCTTTTTCACTGTCTTTGCCAGTGAGCTGTCAGTCTAC
mu: CTGGCTTTTTCGCTGTCTTTGCCAGTGAGCTGTCAGTCTAC		 tttg|CCAG
Acc marginally increased191066wt: 0.7906 / mu: 0.8134 (marginal change - not scored)wt: TGCTGCTGGCTTTTTCACTGTCTTTGCCAGTGAGCTGTCAG
mu: TGCTGCTGGCTTTTTCGCTGTCTTTGCCAGTGAGCTGTCAG		 ctgt|CTTT
Acc marginally increased191072wt: 0.9318 / mu: 0.9447 (marginal change - not scored)wt: TGGCTTTTTCACTGTCTTTGCCAGTGAGCTGTCAGTCTACA
mu: TGGCTTTTTCGCTGTCTTTGCCAGTGAGCTGTCAGTCTACA		 ttgc|CAGT
Acc marginally increased191070wt: 0.8597 / mu: 0.8938 (marginal change - not scored)wt: GCTGGCTTTTTCACTGTCTTTGCCAGTGAGCTGTCAGTCTA
mu: GCTGGCTTTTTCGCTGTCTTTGCCAGTGAGCTGTCAGTCTA		 cttt|GCCA
Acc marginally increased191061wt: 0.8817 / mu: 0.9434 (marginal change - not scored)wt: TGTGATGCTGCTGGCTTTTTCACTGTCTTTGCCAGTGAGCT
mu: TGTGATGCTGCTGGCTTTTTCGCTGTCTTTGCCAGTGAGCT		 tttc|ACTG
distance from splice site 491
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      387TGAGCDAAGFFTVFASELSVYTLT
mutated  not conserved    387TGAGCDAAGFFAVFASELSVYTL
Ptroglodytes  all identical  ENSPTRG00000011914  449TGAGCDAAGFFTVFASELSVYTL
Mmulatta  all identical  ENSMMUG00000017196  449TGAGCDAAGFFTVFASELSVYTL
Fcatus  all identical  ENSFCAG00000001215  449TGAGCDAAGFFTVFASELSVYTL
Mmusculus  all identical  ENSMUSG00000032937  448TGAGCDAAGFFTVFASELSVYTL
Ggallus  all identical  ENSGALG00000009100  449TGAGCNAAGFFTVFASELSVYTL
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000071494  430TGAGCHVAGFFTVFSSELSVYTL
Dmelanogaster  all identical  FBgn0016650  576KVAGFLTVFASHLSVFTL
Celegans  not conserved  C50H2.1  517TGWGCRAAGFLAVFASELGIISM
Xtropicalis  all identical  ENSXETG00000025827  351TGAGCHAAGFFTVFASELSV
protein features
start (aa)end (aa)featuredetails 
367387TRANSMEMHelical; Name=1; (Potential).lost
388398TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
399421TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
422443TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
442442DISULFIDBy similarity.might get lost (downstream of altered splice site)
444465TRANSMEMHelical; Name=3; (Potential).might get lost (downstream of altered splice site)
466485TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
486508TRANSMEMHelical; Name=4; (Potential).might get lost (downstream of altered splice site)
509528TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
517517DISULFIDBy similarity.might get lost (downstream of altered splice site)
529550TRANSMEMHelical; Name=5; (Potential).might get lost (downstream of altered splice site)
551573TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
574597TRANSMEMHelical; Name=6; (Potential).might get lost (downstream of altered splice site)
598608TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
609630TRANSMEMHelical; Name=7; (Potential).might get lost (downstream of altered splice site)
631695TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1902 / 1902
position (AA) of stopcodon in wt / mu AA sequence 634 / 634
position of stopcodon in wt / mu cDNA 2012 / 2012
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 111 / 111
chromosome 2
strand -1
last intron/exon boundary 779
theoretical NMD boundary in CDS 618
length of CDS 1902
coding sequence (CDS) position 1159
cDNA position
(for ins/del: last normal base / first normal base)		 1269
gDNA position
(for ins/del: last normal base / first normal base)		 191062
chromosomal position
(for ins/del: last normal base / first normal base)		 49190615
original gDNA sequence snippet GTGATGCTGCTGGCTTTTTCACTGTCTTTGCCAGTGAGCTG
altered gDNA sequence snippet GTGATGCTGCTGGCTTTTTCGCTGTCTTTGCCAGTGAGCTG
original cDNA sequence snippet GTGATGCTGCTGGCTTTTTCACTGTCTTTGCCAGTGAGCTG
altered cDNA sequence snippet GTGATGCTGCTGGCTTTTTCGCTGTCTTTGCCAGTGAGCTG
wildtype AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILSELHPIC NKSILRQEVD
YMTQARGQRS SLAEDNESSY SRGFDMTYTE FDYDLCNEVV DVTCSPKPDA FNPCEDIMGY
NILRVLIWFI SILAITGNII VLVILTTSQY KLTVPRFLMC NLAFADLCIG IYLLLIASVD
IHTKSQYHNY AIDWQTGAGC DAAGFFTVFA SELSVYTLTA ITLERWHTIT HAMQLDCKVQ
LRHAASVMVM GWIFAFAAAL FPIFGISSYM KVSICLPMDI DSPLSQLYVM SLLVLNVLAF
VVICGCYIHI YLTVRNPNIV SSSSDTRIAK RMAMLIFTDF LCMAPISFFA ISASLKVPLI
TVSKAKILLV LFHPINSCAN PFLYAIFTKN FRRDFFILLS KCGCYEMQAQ IYRTETSSTV
HNTHPRNGHC SSAPRVTSGS TYILVPLSHL AQN*
mutated AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTI ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILSELHPIC NKSILRQEVD
YMTQARGQRS SLAEDNESSY SRGFDMTYTE FDYDLCNEVV DVTCSPKPDA FNPCEDIMGY
NILRVLIWFI SILAITGNII VLVILTTSQY KLTVPRFLMC NLAFADLCIG IYLLLIASVD
IHTKSQYHNY AIDWQTGAGC DAAGFFAVFA SELSVYTLTA ITLERWHTIT HAMQLDCKVQ
LRHAASVMVM GWIFAFAAAL FPIFGISSYM KVSICLPMDI DSPLSQLYVM SLLVLNVLAF
VVICGCYIHI YLTVRNPNIV SSSSDTRIAK RMAMLIFTDF LCMAPISFFA ISASLKVPLI
TVSKAKILLV LFHPINSCAN PFLYAIFTKN FRRDFFILLS KCGCYEMQAQ IYRTETSSTV
HNTHPRNGHC SSAPRVTSGS TYILVPLSHL AQN*
speed 0.99 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