Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999253758074 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM063884)
  • known disease mutation: rs17612 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:116280877A>TN/A show variant in all transcripts   IGV
HGNC symbol CASQ2
Ensembl transcript ID ENST00000261448
Genbank transcript ID NM_001232
UniProt peptide O14958
alteration type single base exchange
alteration region CDS
DNA changes c.500T>A
cDNA.740T>A
g.30526T>A
AA changes L167H Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 167
frameshift no
known variant Reference ID: rs121434550
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs17612 (pathogenic for Ventricular tachycardia, catecholaminergic polymorphic, 2) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM063884)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063884)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063884)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4111
3.7581
(flanking)4.521
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 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      167QAFERIEDYIKLIGFFKSEDSEYY
mutated  not conserved    167QAFERIEDYIKHIGFFKSEDSEY
Ptroglodytes  all identical  ENSPTRG00000001148  167QAFERIEDYIKLIGFFKSEDSEY
Mmulatta  all identical  ENSMMUG00000008970  167QAFERIEDHIKLIGFFKSEDSEY
Fcatus  all identical  ENSFCAG00000010496  27QAFERIEDHIKLIGFFKSEDSEY
Mmusculus  all identical  ENSMUSG00000027861  167QAFERIEDQTKLLGFFKNEDSEY
Ggallus  all identical  ENSGALG00000015018  167QAFDQIDDEIKLIGYFKGEDSEH
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000008982  168RAFDRMEEDIKLIGFFKSQESEH
Dmelanogaster  no homologue    
Celegans  all conserved  F40E10.3  175EEFENMDDECVRIIGYFEP-GSVA
Xtropicalis  not conserved  ENSXETG00000023738  68------------------PDKPY
protein features
start (aa)end (aa)featuredetails 
159176STRANDlost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1200 / 1200
position (AA) of stopcodon in wt / mu AA sequence 400 / 400
position of stopcodon in wt / mu cDNA 1440 / 1440
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 241 / 241
chromosome 1
strand -1
last intron/exon boundary 1255
theoretical NMD boundary in CDS 964
length of CDS 1200
coding sequence (CDS) position 500
cDNA position
(for ins/del: last normal base / first normal base)		 740
gDNA position
(for ins/del: last normal base / first normal base)		 30526
chromosomal position
(for ins/del: last normal base / first normal base)		 116280877
original gDNA sequence snippet CATTGAAGACTACATCAAACTCATTGGCTTTTTCAAGAGTG
altered gDNA sequence snippet CATTGAAGACTACATCAAACACATTGGCTTTTTCAAGAGTG
original cDNA sequence snippet CATTGAAGACTACATCAAACTCATTGGCTTTTTCAAGAGTG
altered cDNA sequence snippet CATTGAAGACTACATCAAACACATTGGCTTTTTCAAGAGTG
wildtype AA sequence MKRTHLFIVG IYFLSSCRAE EGLNFPTYDG KDRVVSLSEK NFKQVLKKYD LLCLYYHEPV
SSDKVTQKQF QLKEIVLELV AQVLEHKAIG FVMVDAKKEA KLAKKLGFDE EGSLYILKGD
RTIEFDGEFA ADVLVEFLLD LIEDPVEIIS SKLEVQAFER IEDYIKLIGF FKSEDSEYYK
AFEEAAEHFQ PYIKFFATFD KGVAKKLSLK MNEVDFYEPF MDEPIAIPNK PYTEEELVEF
VKEHQRPTLR RLRPEEMFET WEDDLNGIHI VAFAEKSDPD GYEFLEILKQ VARDNTDNPD
LSILWIDPDD FPLLVAYWEK TFKIDLFRPQ IGVVNVTDAD SVWMEIPDDD DLPTAEELED
WIEDVLSGKI NTEDDDEDDD DDDNSDEEDN DDSDDDDDE*
mutated AA sequence MKRTHLFIVG IYFLSSCRAE EGLNFPTYDG KDRVVSLSEK NFKQVLKKYD LLCLYYHEPV
SSDKVTQKQF QLKEIVLELV AQVLEHKAIG FVMVDAKKEA KLAKKLGFDE EGSLYILKGD
RTIEFDGEFA ADVLVEFLLD LIEDPVEIIS SKLEVQAFER IEDYIKHIGF FKSEDSEYYK
AFEEAAEHFQ PYIKFFATFD KGVAKKLSLK MNEVDFYEPF MDEPIAIPNK PYTEEELVEF
VKEHQRPTLR RLRPEEMFET WEDDLNGIHI VAFAEKSDPD GYEFLEILKQ VARDNTDNPD
LSILWIDPDD FPLLVAYWEK TFKIDLFRPQ IGVVNVTDAD SVWMEIPDDD DLPTAEELED
WIEDVLSGKI NTEDDDEDDD DDDNSDEEDN DDSDDDDDE*
speed 0.85 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