Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999995003247476      (explain)
Summary
  • amino acid sequence changed
  • known as potential disease variant: rs16244 (probable pathogenic)
  • known disease mutation at this position (HGMD CM980772)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:49216161A>GN/A show variant in all transcripts   IGV
HGNC symbol FSHR
Ensembl transcript ID ENST00000406846
Genbank transcript ID NM_000145
UniProt peptide P23945
alteration type single base exchange
alteration region CDS
DNA changes c.479T>C
cDNA.599T>C
g.165516T>C
AA changes I160T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 160
frameshift no
known variant Reference ID: rs121909659
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC033

known as potential disease variant: rs16244 (probable pathogenic for Ovarian hyperstimulation syndrome|Ovarian dysgenesis 1|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM980772)

known disease mutation at this position, please check HGMD for details (HGMD ID CM980772)
known disease mutation at this position, please check HGMD for details (HGMD ID CM980772)
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9380.993
3.1390.973
(flanking)-0.8870.001
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 increased165515wt: 0.8867 / mu: 0.9637 (marginal change - not scored)wt: ACACAATTGAAAGAA
mu: ACACAACTGAAAGAA		 ACAA|ttga
Donor marginally increased165516wt: 0.8877 / mu: 0.9086 (marginal change - not scored)wt: CACAATTGAAAGAAA
mu: CACAACTGAAAGAAA		 CAAT|tgaa
Donor increased165520wt: 0.53 / mu: 0.91wt: ATTGAAAGAAATTCT
mu: ACTGAAAGAAATTCT		 TGAA|agaa
Donor increased165521wt: 0.38 / mu: 0.56wt: TTGAAAGAAATTCTT
mu: CTGAAAGAAATTCTT		 GAAA|gaaa
Donor marginally increased165510wt: 0.8327 / mu: 0.8572 (marginal change - not scored)wt: CATCCACACAATTGA
mu: CATCCACACAACTGA		 TCCA|caca
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      160LDIQDNINIHTIERNSFVGLSFES
mutated  not conserved    160LDIQDNINIHTTERNSFVGLSFE
Ptroglodytes  all identical  ENSPTRG00000011914  160LDIQDNINIHTIERNSFVGLSFE
Mmulatta  all identical  ENSMMUG00000017196  160LDIQDNINIHTIERNSFVGLSFE
Fcatus  not conserved  ENSFCAG00000001215  160XXXXXXXXXXXXXXXXXXXXXXX
Mmusculus  all identical  ENSMUSG00000032937  160LDIQDNINIHIIARNSFMGLSFE
Ggallus  all identical  ENSGALG00000009100  160LDVQDNIHIRTIERNTFMGLSSE
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000071494  166FDLQDNMHIERIPSNAFLGLTNA
Dmelanogaster  all identical  FBgn0016650  246IDL-DNNQITRIDSKS---IKVK
Celegans  all identical  C50H2.1  196IDLSGNKIKFISDSKVRNVKAR
Xtropicalis  all identical  ENSXETG00000025827  60LEIQDNINIKKIERNSFAGLSID
protein features
start (aa)end (aa)featuredetails 
18366TOPO_DOMExtracellular (Potential).lost
144169REPEATLRR 5.lost
168171STRANDmight get lost (downstream of altered splice site)
170192REPEATLRR 6.might get lost (downstream of altered splice site)
173176STRANDmight get lost (downstream of altered splice site)
187192TURNmight get lost (downstream of altered splice site)
191191CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
193199STRANDmight get lost (downstream of altered splice site)
193216REPEATLRR 7.might get lost (downstream of altered splice site)
197198CONFLICTEL -> AV (in Ref. 1; AAA52477).might get lost (downstream of altered splice site)
199199CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
211216TURNmight get lost (downstream of altered splice site)
217240REPEATLRR 8.might get lost (downstream of altered splice site)
221224STRANDmight get lost (downstream of altered splice site)
235237STRANDmight get lost (downstream of altered splice site)
241259REPEATLRR 9.might get lost (downstream of altered splice site)
243245STRANDmight get lost (downstream of altered splice site)
258260TURNmight get lost (downstream of altered splice site)
266268STRANDmight get lost (downstream of altered splice site)
272280HELIXmight get lost (downstream of altered splice site)
293293CARBOHYDN-linked (GlcNAc...) (By similarity).might get lost (downstream of altered splice site)
295295CONFLICTS -> P (in Ref. 8; CAA48179).might get lost (downstream of altered splice site)
318318CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
345348STRANDmight get lost (downstream of altered splice site)
367387TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
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 2088 / 2088
position (AA) of stopcodon in wt / mu AA sequence 696 / 696
position of stopcodon in wt / mu cDNA 2208 / 2208
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 121 / 121
chromosome 2
strand -1
last intron/exon boundary 975
theoretical NMD boundary in CDS 804
length of CDS 2088
coding sequence (CDS) position 479
cDNA position
(for ins/del: last normal base / first normal base)		 599
gDNA position
(for ins/del: last normal base / first normal base)		 165516
chromosomal position
(for ins/del: last normal base / first normal base)		 49216161
original gDNA sequence snippet TAACATAAACATCCACACAATTGAAAGAAATTCTTTCGTGG
altered gDNA sequence snippet TAACATAAACATCCACACAACTGAAAGAAATTCTTTCGTGG
original cDNA sequence snippet TAACATAAACATCCACACAATTGAAAGAAATTCTTTCGTGG
altered cDNA sequence snippet TAACATAAACATCCACACAACTGAAAGAAATTCTTTCGTGG
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 VILDISRTRI HSLPSYGLEN
LKKLRARSTY NLKKLPTLEK LVALMEASLT YPSHCCAFAN WRRQISELHP ICNKSILRQE
VDYMTQARGQ RSSLAEDNES SYSRGFDMTY TEFDYDLCNE VVDVTCSPKP DAFNPCEDIM
GYNILRVLIW FISILAITGN IIVLVILTTS QYKLTVPRFL MCNLAFADLC IGIYLLLIAS
VDIHTKSQYH NYAIDWQTGA GCDAAGFFTV FASELSVYTL TAITLERWHT ITHAMQLDCK
VQLRHAASVM VMGWIFAFAA ALFPIFGISS YMKVSICLPM DIDSPLSQLY VMSLLVLNVL
AFVVICGCYI HIYLTVRNPN IVSSSSDTRI AKRMAMLIFT DFLCMAPISF FAISASLKVP
LITVSKAKIL LVLFHPINSC ANPFLYAIFT KNFRRDFFIL LSKCGCYEMQ AQIYRTETSS
TVHNTHPRNG HCSSAPRVTS GSTYILVPLS HLAQN*
mutated AA sequence MALLLVSLLA FLSLGSGCHH RICHCSNRVF LCQESKVTEI PSDLPRNAIE LRFVLTKLRV
IQKGAFSGFG DLEKIEISQN DVLEVIEADV FSNLPKLHEI RIEKANNLLY INPEAFQNLP
NLQYLLISNT GIKHLPDVHK IHSLQKVLLD IQDNINIHTT ERNSFVGLSF ESVILWLNKN
GIQEIHNCAF NGTQLDELNL SDNNNLEELP NDVFHGASGP VILDISRTRI HSLPSYGLEN
LKKLRARSTY NLKKLPTLEK LVALMEASLT YPSHCCAFAN WRRQISELHP ICNKSILRQE
VDYMTQARGQ RSSLAEDNES SYSRGFDMTY TEFDYDLCNE VVDVTCSPKP DAFNPCEDIM
GYNILRVLIW FISILAITGN IIVLVILTTS QYKLTVPRFL MCNLAFADLC IGIYLLLIAS
VDIHTKSQYH NYAIDWQTGA GCDAAGFFTV FASELSVYTL TAITLERWHT ITHAMQLDCK
VQLRHAASVM VMGWIFAFAA ALFPIFGISS YMKVSICLPM DIDSPLSQLY VMSLLVLNVL
AFVVICGCYI HIYLTVRNPN IVSSSSDTRI AKRMAMLIFT DFLCMAPISF FAISASLKVP
LITVSKAKIL LVLFHPINSC ANPFLYAIFT KNFRRDFFIL LSKCGCYEMQ AQIYRTETSS
TVHNTHPRNG HCSSAPRVTS GSTYILVPLS HLAQN*
speed 1.22 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