Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999552961561826 (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) chr9:712156T>GN/A show variant in all transcripts   IGV
HGNC symbol KANK1
Ensembl transcript ID ENST00000354485
Genbank transcript ID N/A
UniProt peptide Q14678
alteration type single base exchange
alteration region CDS
DNA changes c.1390T>G
cDNA.1525T>G
g.241866T>G
AA changes S464A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 464
frameshift no
known variant Reference ID: rs912174
databasehomozygous (G/G)heterozygousallele carriers
1000G124776900
ExAC33171988723204
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3740.212
3.2990.997
(flanking)4.1911
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased241857wt: 0.61 / mu: 0.68wt: AGCAGACCATAGAAT
mu: AGCAGACCATAGAAG		 CAGA|ccat
Donor increased241860wt: 0.71 / mu: 1.00wt: AGACCATAGAATCCT
mu: AGACCATAGAAGCCT		 ACCA|taga
Donor gained2418650.70mu: ATAGAAGCCTTGAAG AGAA|gcct
distance from splice site 1309
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      464KEIELQQQTIESLKEKIYRLEVQL
mutated  all conserved    464KEIELQQQTIEALKEKIYRLEVQ
Ptroglodytes  no alignment  ENSPTRG00000023259  n/a
Mmulatta  all conserved  ENSMMUG00000019862  464KEIELQQQTIEALKEKIYRLEVQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000032702  469KEIELQQQTIEALKEKIYRLEV
Ggallus  no alignment  ENSGALG00000010158  n/a
Trubripes  all conserved  ENSTRUG00000015725  440KEVELQHQAIEALKEKIYRLEVQ
Drerio  all conserved  ENSDARG00000060102  460ALKEKIYRLEVQ
Dmelanogaster  all conserved  FBgn0027596  595KKVE--QALTNAQKQQL
Celegans  no alignment  T22D2.1  n/a
Xtropicalis  all conserved  ENSXETG00000002278  471REIELQQQTIEALKDKIYRLETD
protein features
start (aa)end (aa)featuredetails 
291467REGIONInteraction with KIF21A.lost
446500COILEDPotential.lost
613613MUTAGENL->A: Nuclear localization; when associated A-43; A-52; A-125; A-129; A- 134; A-616; A-620 and A-622.might get lost (downstream of altered splice site)
613622REGIONNuclear export signal 3 (NES 3).might get lost (downstream of altered splice site)
616616MUTAGENL->A: Nuclear localization; when associated A-43; A-52; A-125; A-129; A- 134; A-613; A-620 and A-622.might get lost (downstream of altered splice site)
620620MUTAGENL->A: Nuclear localization; when associated A-43; A-52; A-125; A-129; A- 134; A-613; A-616 and A-622.might get lost (downstream of altered splice site)
622622MUTAGENL->A: Nuclear localization; when associated A-43; A-52; A-125; A-129; A- 134; A-613; A-616 and A-620.might get lost (downstream of altered splice site)
979981MUTAGENKKK->AAA: Enhanced cytoplasmic localization; when associated with 65-A-- A-68 and 991-A-A-992.might get lost (downstream of altered splice site)
979992REGIONNuclear localization signal 2 (NLS 2).might get lost (downstream of altered splice site)
991992MUTAGENKK->AA: Enhanced cytoplasmic localization; when associated with 65-A-- 68 and 979-A--A-981.might get lost (downstream of altered splice site)
11561308REGIONInteraction with KIF21A.might get lost (downstream of altered splice site)
11611191REPEATANK 1.might get lost (downstream of altered splice site)
11951228REPEATANK 2.might get lost (downstream of altered splice site)
12331262REPEATANK 3.might get lost (downstream of altered splice site)
12661298REPEATANK 4.might get lost (downstream of altered splice site)
13001329REPEATANK 5.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2937 / 2937
position (AA) of stopcodon in wt / mu AA sequence 979 / 979
position of stopcodon in wt / mu cDNA 3072 / 3072
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 136 / 136
chromosome 9
strand 1
last intron/exon boundary 2834
theoretical NMD boundary in CDS 2648
length of CDS 2937
coding sequence (CDS) position 1390
cDNA position
(for ins/del: last normal base / first normal base)		 1525
gDNA position
(for ins/del: last normal base / first normal base)		 241866
chromosomal position
(for ins/del: last normal base / first normal base)		 712156
original gDNA sequence snippet TGCAACAGCAGACCATAGAATCCTTGAAGGAAAAGATCTAT
altered gDNA sequence snippet TGCAACAGCAGACCATAGAAGCCTTGAAGGAAAAGATCTAT
original cDNA sequence snippet TGCAACAGCAGACCATAGAATCCTTGAAGGAAAAGATCTAT
altered cDNA sequence snippet TGCAACAGCAGACCATAGAAGCCTTGAAGGAAAAGATCTAT
wildtype AA sequence MAHTTKVNGS ASGKAGDILS GDQDKEQKDP YFVETPYGYQ LDLDFLKYVD DIQKGNTIKR
LNIQKRRKPS VPCPEPRTTS GQQGIWTSTE SLSSSNSDDN KQCPNFLIAR SQVTSTPISK
PPPPLETSLP FLTIPENRQL PPPSPQLPKH NLHVTKTLME TRRRLEQERA TMQMTPGEFR
RPRLASFGGM GTTSSLPSFV GSGNHNPAKH QLQNGYQGNG DYGSYAPAAP TTSSMGSSIR
HSPLSSGIST PVTNVSPMHL QHIREQMAIA LKRLKELEEQ VRTIPVLQVK ISVLQEEKRQ
LVSQLKNQRA ASQINVCGVR KRSYSAGNAS QLEQLSRARR SGGELYIDYE EEEMETVEQS
TQRIKEFRQL TADMQALEQK IQDSSCEASS ELRENGECRS VAVGAEENMN DIVVYHRGSR
SCKDAAVGTL VEMRNCGVSV TEAMLGVMTE ADKEIELQQQ TIESLKEKIY RLEVQLRETT
HDREMTKLKQ ELQAAGSRKK VDKATMAQPL VFSKVVEAVV QTRDQMVGSH MDLVDTCVGT
SVETNSVGIS CQPECKNKVV GPELPMNWWI VKERVEMHDR CAGRSVEMCD KSVSVEVSVC
ETGSNTEESV NDLTLLKTNL NLKEVRSIGC GDCSVDVTVC SPKECASRGV NTEAVSQVEA
AVMAVPRTAD QDTSTDLEQV HQFTNTETAT LIESCTNTCL STLDKQTSTQ TVETRTVAVG
EGRVKDINSS TKTRSIGVGT LLSGHSGFDR PSAVKTKESG VGQININDNY LVGLKMRTIA
CGPPQLTVGL TASRRSVGVG DDPVGESLEN PQPQAPLGMM TGLDHYIERI QKLLAEQQTL
LAENYSELAE AFGEPHSQMG SLNSQLISTL SSINSVMKSA STEELRNPDF QKTSLGKITG
NYLGYTCKCG GLQSGSPLSS QTSQPEQEVG TSEGKPISSL DAFPTQEGTL SPVNLTDDQI
AAGLYGNFSH SQSLASGF*
mutated AA sequence MAHTTKVNGS ASGKAGDILS GDQDKEQKDP YFVETPYGYQ LDLDFLKYVD DIQKGNTIKR
LNIQKRRKPS VPCPEPRTTS GQQGIWTSTE SLSSSNSDDN KQCPNFLIAR SQVTSTPISK
PPPPLETSLP FLTIPENRQL PPPSPQLPKH NLHVTKTLME TRRRLEQERA TMQMTPGEFR
RPRLASFGGM GTTSSLPSFV GSGNHNPAKH QLQNGYQGNG DYGSYAPAAP TTSSMGSSIR
HSPLSSGIST PVTNVSPMHL QHIREQMAIA LKRLKELEEQ VRTIPVLQVK ISVLQEEKRQ
LVSQLKNQRA ASQINVCGVR KRSYSAGNAS QLEQLSRARR SGGELYIDYE EEEMETVEQS
TQRIKEFRQL TADMQALEQK IQDSSCEASS ELRENGECRS VAVGAEENMN DIVVYHRGSR
SCKDAAVGTL VEMRNCGVSV TEAMLGVMTE ADKEIELQQQ TIEALKEKIY RLEVQLRETT
HDREMTKLKQ ELQAAGSRKK VDKATMAQPL VFSKVVEAVV QTRDQMVGSH MDLVDTCVGT
SVETNSVGIS CQPECKNKVV GPELPMNWWI VKERVEMHDR CAGRSVEMCD KSVSVEVSVC
ETGSNTEESV NDLTLLKTNL NLKEVRSIGC GDCSVDVTVC SPKECASRGV NTEAVSQVEA
AVMAVPRTAD QDTSTDLEQV HQFTNTETAT LIESCTNTCL STLDKQTSTQ TVETRTVAVG
EGRVKDINSS TKTRSIGVGT LLSGHSGFDR PSAVKTKESG VGQININDNY LVGLKMRTIA
CGPPQLTVGL TASRRSVGVG DDPVGESLEN PQPQAPLGMM TGLDHYIERI QKLLAEQQTL
LAENYSELAE AFGEPHSQMG SLNSQLISTL SSINSVMKSA STEELRNPDF QKTSLGKITG
NYLGYTCKCG GLQSGSPLSS QTSQPEQEVG TSEGKPISSL DAFPTQEGTL SPVNLTDDQI
AAGLYGNFSH SQSLASGF*
speed 1.00 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