Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999999 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:10137557A>CN/A show variant in all transcripts   IGV
HGNC symbol CLEC12A
Ensembl transcript ID ENST00000304361
Genbank transcript ID NM_138337
UniProt peptide Q5QGZ9
alteration type single base exchange
alteration region CDS
DNA changes c.730A>C
cDNA.912A>C
g.33643A>C
AA changes K244Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 244
frameshift no
known variant Reference ID: rs479499
databasehomozygous (C/C)heterozygousallele carriers
1000G13849252309
ExAC14239428918528
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2940
-1.9990
(flanking)-0.1590
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased33637wt: 0.21 / mu: 0.29wt: TTCAATATTATCACTGCACTTATAAAAAAAGAATGATATGT
mu: TTCAATATTATCACTGCACTTATAAACAAAGAATGATATGT		 actt|ATAA
Acc increased33635wt: 0.26 / mu: 0.40wt: TGTTCAATATTATCACTGCACTTATAAAAAAAGAATGATAT
mu: TGTTCAATATTATCACTGCACTTATAAACAAAGAATGATAT		 gcac|TTAT
Acc increased33641wt: 0.28 / mu: 0.36wt: ATATTATCACTGCACTTATAAAAAAAGAATGATATGTGAGA
mu: ATATTATCACTGCACTTATAAACAAAGAATGATATGTGAGA		 ataa|AAAA
Donor increased33645wt: 0.51 / mu: 0.59wt: AAAAAAAGAATGATA
mu: AAACAAAGAATGATA		 AAAA|agaa
distance from splice site 89
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      244LYVQYYHCTYKKRMICEKMANPVQ
mutated  all conserved    244TYKQRMICEKMANPV
Ptroglodytes  all conserved  ENSPTRG00000039976  254TYKQRMICEKMANPV
Mmulatta  all identical  ENSMMUG00000002956  244IYRKKMICEKMANPV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000053063  242TDENNIICEETASKV
Ggallus  all conserved  ENSGALG00000014722  221IIYASNSCSTKQSWICEKGA
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
65265TOPO_DOMExtracellular (Potential).lost
140249DOMAINC-type lectin.lost
240240DISULFIDBy similarity.might get lost (downstream of altered splice site)
248248DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 798 / 798
position (AA) of stopcodon in wt / mu AA sequence 266 / 266
position of stopcodon in wt / mu cDNA 980 / 980
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 183 / 183
chromosome 12
strand 1
last intron/exon boundary 824
theoretical NMD boundary in CDS 591
length of CDS 798
coding sequence (CDS) position 730
cDNA position
(for ins/del: last normal base / first normal base)		 912
gDNA position
(for ins/del: last normal base / first normal base)		 33643
chromosomal position
(for ins/del: last normal base / first normal base)		 10137557
original gDNA sequence snippet ATTATCACTGCACTTATAAAAAAAGAATGATATGTGAGAAG
altered gDNA sequence snippet ATTATCACTGCACTTATAAACAAAGAATGATATGTGAGAAG
original cDNA sequence snippet ATTATCACTGCACTTATAAAAAAAGAATGATATGTGAGAAG
altered cDNA sequence snippet ATTATCACTGCACTTATAAACAAAGAATGATATGTGAGAAG
wildtype AA sequence MSEEVTYADL QFQNSSEMEK IPEIGKFGEK APPAPSHVWR PAALFLTLLC LLLLIGLGVL
ASMFHVTLKI EMKKMNKLQN ISEELQRNIS LQLMSNMNIS NKIRNLSTTL QTIATKLCRE
LYSKEQEHKC KPCPRRWIWH KDSCYFLSDD VQTWQESKMA CAAQNASLLK INNKNALEFI
KSQSRSYDYW LGLSPEEDST RGMRVDNIIN SSAWVIRNAP DLNNMYCGYI NRLYVQYYHC
TYKKRMICEK MANPVQLGST YFREA*
mutated AA sequence MSEEVTYADL QFQNSSEMEK IPEIGKFGEK APPAPSHVWR PAALFLTLLC LLLLIGLGVL
ASMFHVTLKI EMKKMNKLQN ISEELQRNIS LQLMSNMNIS NKIRNLSTTL QTIATKLCRE
LYSKEQEHKC KPCPRRWIWH KDSCYFLSDD VQTWQESKMA CAAQNASLLK INNKNALEFI
KSQSRSYDYW LGLSPEEDST RGMRVDNIIN SSAWVIRNAP DLNNMYCGYI NRLYVQYYHC
TYKQRMICEK MANPVQLGST YFREA*
speed 1.31 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