Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 6.25712017168042e-09 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:108618630C>TN/A show variant in all transcripts   IGV
HGNC symbol WSCD2
Ensembl transcript ID ENST00000547525
Genbank transcript ID N/A
UniProt peptide Q2TBF2
alteration type single base exchange
alteration region CDS
DNA changes c.797C>T
cDNA.1804C>T
g.95383C>T
AA changes T266I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 266
frameshift no
known variant Reference ID: rs3764002
databasehomozygous (T/T)heterozygousallele carriers
1000G2637611024
ExAC51282219227320
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)4.7591
5.761
(flanking)-4.8320
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased95383wt: 0.4691 / mu: 0.5026 (marginal change - not scored)wt: CAAATGCGTGGACTTCTGCACTGAGAAGGTGAGCACAAGGT
mu: CAAATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGT		 gcac|TGAG
Donor marginally increased95381wt: 0.2148 / mu: 0.2332 (marginal change - not scored)wt: TTCTGCACTGAGAAG
mu: TTCTGCATTGAGAAG		 CTGC|actg
Acc gained953860.31mu: ATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGTGGG ttga|GAAG
distance from splice site 8
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      266NMSVDKCVDFCTEKEYPLAALAGT
mutated  not conserved    266NMSVDKCVDFCIEKEYPLAALAG
Ptroglodytes  all identical  ENSPTRG00000005402  266NMSVDKCVDFCTEKEYPLAALAG
Mmulatta  no alignment  ENSMMUG00000019042  n/a
Fcatus  all identical  ENSFCAG00000010884  223NMSVDKCVDLCTEKEYPLAALAG
Mmusculus  all identical  ENSMUSG00000063430  272NMSVDKCVDLCTEKEFPLAALAG
Ggallus  all identical  ENSGALG00000004849  275NMSVDKCVDFCTEKEFPLSALAG
Trubripes  all identical  ENSTRUG00000014085  266NMSVDKCVDMCTEKERSLAVLSG
Drerio  all identical  ENSDARG00000061819  273NMSVDKCVDMCTEKEFSLAALAG
Dmelanogaster  no alignment  FBgn0030634  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000011472  266NMSVDKCVDLCTEKEYPLAVLGG
protein features
start (aa)end (aa)featuredetails 
230324DOMAINWSC 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1698 / 1698
position (AA) of stopcodon in wt / mu AA sequence 566 / 566
position of stopcodon in wt / mu cDNA 2705 / 2705
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 1008 / 1008
chromosome 12
strand 1
last intron/exon boundary 2353
theoretical NMD boundary in CDS 1295
length of CDS 1698
coding sequence (CDS) position 797
cDNA position
(for ins/del: last normal base / first normal base)		 1804
gDNA position
(for ins/del: last normal base / first normal base)		 95383
chromosomal position
(for ins/del: last normal base / first normal base)		 108618630
original gDNA sequence snippet CAAATGCGTGGACTTCTGCACTGAGAAGGTGAGCACAAGGT
altered gDNA sequence snippet CAAATGCGTGGACTTCTGCATTGAGAAGGTGAGCACAAGGT
original cDNA sequence snippet CAAATGCGTGGACTTCTGCACTGAGAAGGAGTACCCGCTGG
altered cDNA sequence snippet CAAATGCGTGGACTTCTGCATTGAGAAGGAGTACCCGCTGG
wildtype AA sequence MAKLWFKFQR YFRRKPVRFF TFLALYLTAG SLVFLHSGFV GQPAVSGNQA NPAAAGGPAE
GAELSFLGDM HLGRGFRDTG EASSIARRYG PWFKGKDGNE RAKLGDYGGA WSRALKGRVV
REKEEERAKY IGCYLDDTQS RALRGVSFFD YKKMTIFRCQ DNCAERGYLY GGLEFGAECY
CGHKIQATNV SEAECDMECK GERGSVCGGA NRLSVYRLQL AQESARRYGS AVFRGCFRRP
DNLSLALPVT AAMLNMSVDK CVDFCTEKEY PLAALAGTAC HCGFPTTRFP LHDREDEQLC
AQKCSAEEFE SCGTPSYFIV YQTQVQDNRC MDRRFLPGKS KQLIALASFP GAGNTWARHL
IELATGFYTG SYYFDGSLYN KGFKGERDHW RSGRTICIKT HESGQKEIEA FDAAILLIRN
PYKALMAEFN RKYGGHIGFA AHAHWKGKEW PEFVRNYAPW WATHTLDWLK FGKKVLVVHF
EDLKQDLFVQ LGRMVSLLGV AVREDRLLCV ESQKDGNFKR SGLRKLEYDP YTADMQKTIS
AYIKMVDAAL KGRNLTGVPD DYYPR*
mutated AA sequence MAKLWFKFQR YFRRKPVRFF TFLALYLTAG SLVFLHSGFV GQPAVSGNQA NPAAAGGPAE
GAELSFLGDM HLGRGFRDTG EASSIARRYG PWFKGKDGNE RAKLGDYGGA WSRALKGRVV
REKEEERAKY IGCYLDDTQS RALRGVSFFD YKKMTIFRCQ DNCAERGYLY GGLEFGAECY
CGHKIQATNV SEAECDMECK GERGSVCGGA NRLSVYRLQL AQESARRYGS AVFRGCFRRP
DNLSLALPVT AAMLNMSVDK CVDFCIEKEY PLAALAGTAC HCGFPTTRFP LHDREDEQLC
AQKCSAEEFE SCGTPSYFIV YQTQVQDNRC MDRRFLPGKS KQLIALASFP GAGNTWARHL
IELATGFYTG SYYFDGSLYN KGFKGERDHW RSGRTICIKT HESGQKEIEA FDAAILLIRN
PYKALMAEFN RKYGGHIGFA AHAHWKGKEW PEFVRNYAPW WATHTLDWLK FGKKVLVVHF
EDLKQDLFVQ LGRMVSLLGV AVREDRLLCV ESQKDGNFKR SGLRKLEYDP YTADMQKTIS
AYIKMVDAAL KGRNLTGVPD DYYPR*
speed 1.04 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