Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.98414599661305 (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 CM072953)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:16356501G>AN/A show variant in all transcripts   IGV
HGNC symbol CLCNKA
Ensembl transcript ID ENST00000439316
Genbank transcript ID N/A
UniProt peptide P51800
alteration type single base exchange
alteration region CDS
DNA changes c.1210G>A
cDNA.1267G>A
g.11172G>A
AA changes A404T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 404
frameshift no
known variant Reference ID: rs1805152
databasehomozygous (A/A)heterozygousallele carriers
1000G109910502149
ExAC19619-647113148

known disease mutation at this position, please check HGMD for details (HGMD ID CM072953)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1320.033
0.5430.485
(flanking)1.6420.961
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased11178wt: 0.32 / mu: 0.36wt: AGGCTCTTGCCGTCGCCTTCCCTGAGGGCATTGTGACTGGA
mu: AGGCTCTTGCCGTCACCTTCCCTGAGGGCATTGTGACTGGA		 ttcc|CTGA
Donor increased11177wt: 0.45 / mu: 0.54wt: GCCTTCCCTGAGGGC
mu: ACCTTCCCTGAGGGC		 CTTC|cctg
Donor gained111680.69mu: CTTGCCGTCACCTTC TGCC|gtca
distance from splice site 42
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      404IGRLLGEALAVAFPEGIVTGGVTN
mutated  not conserved    404IGRLLGEALAVTFPEGIVTGGVT
Ptroglodytes  all identical  ENSPTRG00000034081  437IGRLLGEALAVAFPEGIVAGGVT
Mmulatta  all identical  ENSMMUG00000032242  371IGRLLGEALALAFPEGIVAGGVT
Fcatus  all identical  ENSFCAG00000010168  448IGRLIGEALAVAFPEGIVAGGVT
Mmusculus  all identical  ENSMUSG00000033770  447IGRLLGEALSVAFPEGIVAGGEV
Ggallus  not conserved  ENSGALG00000003713  445EVLASLFPHGIHAEGAA
Trubripes  not conserved  ENSTRUG00000001694  458LGEGVAYVTP----GQKWD
Drerio  not conserved  ENSDARG00000022560  464IGEGSFYLLSGGISSG--K
Dmelanogaster  not conserved  FBgn0051116  559FGRLVGEFMAVTFPHGVRYGG
Celegans  not conserved  E04F6.11  456FGRLVGEGVFSLDPYGHISGDI
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
396416TRANSMEMHelical; (Potential).lost
417437TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
452472TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
486506TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
507687TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
547550HELIXmight get lost (downstream of altered splice site)
551609DOMAINCBS 1.might get lost (downstream of altered splice site)
564572HELIXmight get lost (downstream of altered splice site)
577583STRANDmight get lost (downstream of altered splice site)
585587TURNmight get lost (downstream of altered splice site)
589595STRANDmight get lost (downstream of altered splice site)
596604HELIXmight get lost (downstream of altered splice site)
615615CONFLICTMissing (in Ref. 3; AAH53869).might get lost (downstream of altered splice site)
618623HELIXmight get lost (downstream of altered splice site)
626684DOMAINCBS 2.might get lost (downstream of altered splice site)
641650HELIXmight get lost (downstream of altered splice site)
654660STRANDmight get lost (downstream of altered splice site)
660660MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
663669STRANDmight get lost (downstream of altered splice site)
670681HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1935 / 1935
position (AA) of stopcodon in wt / mu AA sequence 645 / 645
position of stopcodon in wt / mu cDNA 1992 / 1992
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 58 / 58
chromosome 1
strand 1
last intron/exon boundary 1945
theoretical NMD boundary in CDS 1837
length of CDS 1935
coding sequence (CDS) position 1210
cDNA position
(for ins/del: last normal base / first normal base)		 1267
gDNA position
(for ins/del: last normal base / first normal base)		 11172
chromosomal position
(for ins/del: last normal base / first normal base)		 16356501
original gDNA sequence snippet TGGGAGAGGCTCTTGCCGTCGCCTTCCCTGAGGGCATTGTG
altered gDNA sequence snippet TGGGAGAGGCTCTTGCCGTCACCTTCCCTGAGGGCATTGTG
original cDNA sequence snippet TGGGAGAGGCTCTTGCCGTCGCCTTCCCTGAGGGCATTGTG
altered cDNA sequence snippet TGGGAGAGGCTCTTGCCGTCACCTTCCCTGAGGGCATTGTG
wildtype AA sequence MEELVGLREG FSGDPVTLQE LWGPCPHIRR AIQGGLEWLK QKVFRLGEDW YFLMTLGVLM
ALVSYAMNFA IGCVVRGSGI PELKTMLAGV ILEDYLDIKN FGAKVVGLSC TLATGSTLFL
GKVGPFVHLS VMIAAYLGRV RTTTIGEPEN KSKQNEMLVA AAAVGVATVF AAPFSGVLFS
IEVMSSHFSV RDYWRGFFAA TCGAFIFRLL AVFNSEQETI TSLYKTSFRV DVPFDLPEIF
FFVALGGICG VLSCAYLFCQ RTFLSFIKTN RYSSKLLATS KPVYSALATL LLASITYPPG
VGHFLASRLS MKQHLDSLFD NHSWALMTQN SSPPWPEELD PQHLWWEWYH PRFTIFGTLA
FFLVMKFWML ILATTIPMPA GYFMPIFILG AAIGRLLGEA LAVAFPEGIV TGGVTNPIMP
GGYALAGAAA FSGAVTHTIS TALLAFELTG QIVHALPVLM AVLAANAIAQ SCQPSFYDGT
IIVKKLPYLP RILGRNIGSH HVRVEHFMNH SITTLAKDTP LEEVVKVVTS TDVTEYPLVE
STESQILVGI VQRAQLVQAL QAEPPSRAPG HQQCLQDILA RGCPTEPVTL TLFSETTLHQ
AQNLFKLLNL QSLFVTSRGR AVGCVSWVEM KKAISNLTNP PAPK*
mutated AA sequence MEELVGLREG FSGDPVTLQE LWGPCPHIRR AIQGGLEWLK QKVFRLGEDW YFLMTLGVLM
ALVSYAMNFA IGCVVRGSGI PELKTMLAGV ILEDYLDIKN FGAKVVGLSC TLATGSTLFL
GKVGPFVHLS VMIAAYLGRV RTTTIGEPEN KSKQNEMLVA AAAVGVATVF AAPFSGVLFS
IEVMSSHFSV RDYWRGFFAA TCGAFIFRLL AVFNSEQETI TSLYKTSFRV DVPFDLPEIF
FFVALGGICG VLSCAYLFCQ RTFLSFIKTN RYSSKLLATS KPVYSALATL LLASITYPPG
VGHFLASRLS MKQHLDSLFD NHSWALMTQN SSPPWPEELD PQHLWWEWYH PRFTIFGTLA
FFLVMKFWML ILATTIPMPA GYFMPIFILG AAIGRLLGEA LAVTFPEGIV TGGVTNPIMP
GGYALAGAAA FSGAVTHTIS TALLAFELTG QIVHALPVLM AVLAANAIAQ SCQPSFYDGT
IIVKKLPYLP RILGRNIGSH HVRVEHFMNH SITTLAKDTP LEEVVKVVTS TDVTEYPLVE
STESQILVGI VQRAQLVQAL QAEPPSRAPG HQQCLQDILA RGCPTEPVTL TLFSETTLHQ
AQNLFKLLNL QSLFVTSRGR AVGCVSWVEM KKAISNLTNP PAPK*
speed 0.44 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