Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999987838 (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 ENST00000541117
Genbank transcript ID N/A
UniProt peptide P23945
alteration type single base exchange
alteration region CDS
DNA changes c.763C>A
cDNA.1316C>A
g.191272C>A
AA changes P255T Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 255
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 552
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      255ISSYMKVSICLPMDIDSPLSQLYV
mutated  not conserved    255ISSYMKVSICLTMDIDSPLSQLY
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  646ISNYSSTSICLPMENRDVYDTIY
Celegans  all identical  C50H2.1  587VSSYSESSVCLPLRAATIFDKSY
Xtropicalis  all identical  ENSXETG00000025827  421VSSYMKVSICLPMDIENPLSQAY
protein features
start (aa)end (aa)featuredetails 
18366TOPO_DOMExtracellular (Potential).lost
241259REPEATLRR 9.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1296 / 1296
position (AA) of stopcodon in wt / mu AA sequence 432 / 432
position of stopcodon in wt / mu cDNA 1849 / 1849
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 554 / 554
chromosome 2
strand -1
last intron/exon boundary 616
theoretical NMD boundary in CDS 12
length of CDS 1296
coding sequence (CDS) position 763
cDNA position
(for ins/del: last normal base / first normal base)		 1316
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 MEASLTYPSH CCAFANWRRQ ISELHPICNK SILRQEVDYM TQARGQRSSL AEDNESSYSR
GFDMTYTEFD YDLCNEVVDV TCSPKPDAFN PCEDIMGYNI LRVLIWFISI LAITGNIIVL
VILTTSQYKL TVPRFLMCNL AFADLCIGIY LLLIASVDIH TKSQYHNYAI DWQTGAGCDA
AGFFTVFASE LSVYTLTAIT LERWHTITHA MQLDCKVQLR HAASVMVMGW IFAFAAALFP
IFGISSYMKV SICLPMDIDS PLSQLYVMSL LVLNVLAFVV ICGCYIHIYL TVRNPNIVSS
SSDTRIAKRM AMLIFTDFLC MAPISFFAIS ASLKVPLITV SKAKILLVLF HPINSCANPF
LYAIFTKNFR RDFFILLSKC GCYEMQAQIY RTETSSTVHN THPRNGHCSS APRVTSGSTY
ILVPLSHLAQ N*
mutated AA sequence MEASLTYPSH CCAFANWRRQ ISELHPICNK SILRQEVDYM TQARGQRSSL AEDNESSYSR
GFDMTYTEFD YDLCNEVVDV TCSPKPDAFN PCEDIMGYNI LRVLIWFISI LAITGNIIVL
VILTTSQYKL TVPRFLMCNL AFADLCIGIY LLLIASVDIH TKSQYHNYAI DWQTGAGCDA
AGFFTVFASE LSVYTLTAIT LERWHTITHA MQLDCKVQLR HAASVMVMGW IFAFAAALFP
IFGISSYMKV SICLTMDIDS PLSQLYVMSL LVLNVLAFVV ICGCYIHIYL TVRNPNIVSS
SSDTRIAKRM AMLIFTDFLC MAPISFFAIS ASLKVPLITV SKAKILLVLF HPINSCANPF
LYAIFTKNFR RDFFILLSKC GCYEMQAQIY RTETSSTVHN THPRNGHCSS APRVTSGSTY
ILVPLSHLAQ N*
speed 1.45 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