Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999956660935 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM062747)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:49191041C>TN/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.733G>A
cDNA.843G>A
g.190636G>A
AA changes A245T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 245
frameshift no
known variant Reference ID: rs6165
databasehomozygous (T/T)heterozygousallele carriers
1000G65211611813
ExAC18755-474314012

known disease mutation at this position, please check HGMD for details (HGMD ID CM062747)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1240.076
0.5250.141
(flanking)0.3390.286
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased190634wt: 0.9375 / mu: 0.9799 (marginal change - not scored)wt: GACTCAGGCTAGGGG
mu: GACTCAGACTAGGGG		 CTCA|ggct
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      245ILRQEVDYMTQARGQRSSLAEDNE
mutated  not conserved    245YMTQTRGQRSSLAEDN
Ptroglodytes  all identical  ENSPTRG00000011914  307VDYMTQARGQRASLAEDN
Mmulatta  all identical  ENSMMUG00000017196  307VDYMTQARGRRASLAEDN
Fcatus  all identical  ENSFCAG00000001215  307VDDMTQARGQRVSLAEDE
Mmusculus  not conserved  ENSMUSG00000032937  307IDDMTQPGDQRVSLVDD-
Ggallus  not conserved  ENSGALG00000009100  307DLGEQTGKRKHRRSAAEDY
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000071494  275LTQANLTYPSHCCAFKNFKKHKSVKN
Dmelanogaster  not conserved  FBgn0016650  444FDYMADDTMNKGTFHEKIILNPG
Celegans  not conserved  C50H2.1  367---REQQKVARRRKRETSGID
Xtropicalis  not conserved  ENSXETG00000025827  207YESQPEDLKSLNKRSAQVDPILSNG
protein features
start (aa)end (aa)featuredetails 
18366TOPO_DOMExtracellular (Potential).lost
241259REPEATLRR 9.lost
243245STRANDlost
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 733
cDNA position
(for ins/del: last normal base / first normal base)		 843
gDNA position
(for ins/del: last normal base / first normal base)		 190636
chromosomal position
(for ins/del: last normal base / first normal base)		 49191041
original gDNA sequence snippet AAGTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCT
altered gDNA sequence snippet AAGTTGATTATATGACTCAGACTAGGGGTCAGAGATCCTCT
original cDNA sequence snippet AAGTTGATTATATGACTCAGGCTAGGGGTCAGAGATCCTCT
altered cDNA sequence snippet AAGTTGATTATATGACTCAGACTAGGGGTCAGAGATCCTCT
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
YMTQTRGQRS 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*
speed 0.51 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