Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999998823576 (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
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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 ENST00000541117
Genbank transcript ID N/A
UniProt peptide P23945
alteration type single base exchange
alteration region CDS
DNA changes c.127G>A
cDNA.680G>A
g.190636G>A
AA changes A43T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 43
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      43ILRQEVDYMTQARGQRSSLAEDNE
mutated  not conserved    43ILRQEVDYMTQTRGQRSSLAEDN
Ptroglodytes  all identical  ENSPTRG00000011914  307ILRQEVDYMTQARGQRASLAEDN
Mmulatta  all identical  ENSMMUG00000017196  307ILRQEVDYMTQARGRRASLAEDN
Fcatus  all identical  ENSFCAG00000001215  307ILRQEVDDMTQARGQRVSLAEDE
Mmusculus  not conserved  ENSMUSG00000032937  307ISRQDIDDMTQPGDQRVSLVDD-
Ggallus  not conserved  ENSGALG00000009100  307PAKQDLGEQTGKRKHRRSAAEDY
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000071494  315GAHEEPDFFN-------------
Dmelanogaster  not conserved  FBgn0016650  390IEKWRKQCKSDSGTRKERSTL--DN
Celegans  not conserved  C50H2.1  343---REQQKVARRRKRETSG
Xtropicalis  not conserved  ENSXETG00000025827  207YESQPEDLKSLNKRSAQVDPILSNG
protein features
start (aa)end (aa)featuredetails 
1846DOMAINLRRNT.lost
18366TOPO_DOMExtracellular (Potential).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 127
cDNA position
(for ins/del: last normal base / first normal base)		 680
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 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 TQTRGQRSSL 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*
speed 0.15 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