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 ENST00000382293
Genbank transcript ID NM_153186
UniProt peptide Q14678
alteration type single base exchange
alteration region CDS
DNA changes c.916T>G
cDNA.1712T>G
g.241866T>G
AA changes S306A Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 306
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 increased241860wt: 0.71 / mu: 1.00wt: AGACCATAGAATCCT
mu: AGACCATAGAAGCCT		 ACCA|taga
Donor increased241857wt: 0.61 / mu: 0.68wt: AGCAGACCATAGAAT
mu: AGCAGACCATAGAAG		 CAGA|ccat
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      306KEIELQQQTIESLKEKIYRLEVQL
mutated  all conserved    306QQTIEALKEKIYRLEVQ
Ptroglodytes  no alignment  ENSPTRG00000023259  n/a
Mmulatta  all conserved  ENSMMUG00000019862  464QQTIEALKEKIYRLEVQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000032702  469EIELQQQTIEALKEKIYRLEVQ
Ggallus  no alignment  ENSGALG00000010158  n/a
Trubripes  all conserved  ENSTRUG00000015725  441KEVELQHQAIEALKEKIYRLEVQ
Drerio  all conserved  ENSDARG00000060102  460TEIEMQHQTIEALKEKIYRLEVQ
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 
258316COILEDPotential.lost
291467REGIONInteraction with KIF21A.lost
325325MUTAGENS->A: Abolishes phosphorylation by PKB. Abolishes interaction with YWHAB; YWHAG; YWHAE; YWHAH; YWHAQ; YWHAZ and SFN.might get lost (downstream of altered splice site)
325325MOD_RESPhosphoserine; by PKB.might get lost (downstream of altered splice site)
361395COILEDPotential.might get lost (downstream of altered splice site)
446500COILEDPotential.might get lost (downstream of altered splice site)
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 3585 / 3585
position (AA) of stopcodon in wt / mu AA sequence 1195 / 1195
position of stopcodon in wt / mu cDNA 4381 / 4381
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 797 / 797
chromosome 9
strand 1
last intron/exon boundary 4319
theoretical NMD boundary in CDS 3472
length of CDS 3585
coding sequence (CDS) position 916
cDNA position
(for ins/del: last normal base / first normal base)		 1712
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 METRRRLEQE RATMQMTPGE FRRPRLASFG GMGTTSSLPS FVGSGNHNPA KHQLQNGYQG
NGDYGSYAPA APTTSSMGSS IRHSPLSSGI STPVTNVSPM HLQHIREQMA IALKRLKELE
EQVRTIPVLQ VKISVLQEEK RQLVSQLKNQ RAASQINVCG VRKRSYSAGN ASQLEQLSRA
RRSGGELYID YEEEEMETVE QSTQRIKEFR QLTADMQALE QKIQDSSCEA SSELRENGEC
RSVAVGAEEN MNDIVVYHRG SRSCKDAAVG TLVEMRNCGV SVTEAMLGVM TEADKEIELQ
QQTIESLKEK IYRLEVQLRE TTHDREMTKL KQELQAAGSR KKVDKATMAQ PLVFSKVVEA
VVQTRDQMVG SHMDLVDTCV GTSVETNSVG ISCQPECKNK VVGPELPMNW WIVKERVEMH
DRCAGRSVEM CDKSVSVEVS VCETGSNTEE SVNDLTLLKT NLNLKEVRSI GCGDCSVDVT
VCSPKECASR GVNTEAVSQV EAAVMAVPRT ADQDTSTDLE QVHQFTNTET ATLIESCTNT
CLSTLDKQTS TQTVETRTVA VGEGRVKDIN SSTKTRSIGV GTLLSGHSGF DRPSAVKTKE
SGVGQININD NYLVGLKMRT IACGPPQLTV GLTASRRSVG VGDDPVGESL ENPQPQAPLG
MMTGLDHYIE RIQKLLAEQQ TLLAENYSEL AEAFGEPHSQ MGSLNSQLIS TLSSINSVMK
SASTEELRNP DFQKTSLGKI TGNYLGYTCK CGGLQSGSPL SSQTSQPEQE VGTSEGKPIS
SLDAFPTQEG TLSPVNLTDD QIAAGLYACT NNESTLKSIM KKKDGNKDSN GAKKNLQFVG
INGGYETTSS DDSSSDESSS SESDDECDVI EYPLEEEEEE EDEDTRGMAE GHHAVNIEGL
KSARVEDEMQ VQECEPEKVE IRERYELSEK MLSACNLLKN TINDPKALTS KDMRFCLNTL
QHEWFRVSSQ KSAIPAMVGD YIAAFEAISP DVLRYVINLA DGNGNTALHY SVSHSNFEIV
KLLLDADVCN VDHQNKAGYT PIMLAALAAV EAEKDMRIVE ELFGCGDVNA KASQAGQTAL
MLAVSHGRID MVKGLLACGA DVNIQDDEGS TALMCASEHG HVEIVKLLLA QPGCNGHLED
NDGSTALSIA LEAGHKDIAV LLYAHVNFAK AQSPGTPRLG RKTSPGPTHR GSFD*
mutated AA sequence METRRRLEQE RATMQMTPGE FRRPRLASFG GMGTTSSLPS FVGSGNHNPA KHQLQNGYQG
NGDYGSYAPA APTTSSMGSS IRHSPLSSGI STPVTNVSPM HLQHIREQMA IALKRLKELE
EQVRTIPVLQ VKISVLQEEK RQLVSQLKNQ RAASQINVCG VRKRSYSAGN ASQLEQLSRA
RRSGGELYID YEEEEMETVE QSTQRIKEFR QLTADMQALE QKIQDSSCEA SSELRENGEC
RSVAVGAEEN MNDIVVYHRG SRSCKDAAVG TLVEMRNCGV SVTEAMLGVM TEADKEIELQ
QQTIEALKEK IYRLEVQLRE TTHDREMTKL KQELQAAGSR KKVDKATMAQ PLVFSKVVEA
VVQTRDQMVG SHMDLVDTCV GTSVETNSVG ISCQPECKNK VVGPELPMNW WIVKERVEMH
DRCAGRSVEM CDKSVSVEVS VCETGSNTEE SVNDLTLLKT NLNLKEVRSI GCGDCSVDVT
VCSPKECASR GVNTEAVSQV EAAVMAVPRT ADQDTSTDLE QVHQFTNTET ATLIESCTNT
CLSTLDKQTS TQTVETRTVA VGEGRVKDIN SSTKTRSIGV GTLLSGHSGF DRPSAVKTKE
SGVGQININD NYLVGLKMRT IACGPPQLTV GLTASRRSVG VGDDPVGESL ENPQPQAPLG
MMTGLDHYIE RIQKLLAEQQ TLLAENYSEL AEAFGEPHSQ MGSLNSQLIS TLSSINSVMK
SASTEELRNP DFQKTSLGKI TGNYLGYTCK CGGLQSGSPL SSQTSQPEQE VGTSEGKPIS
SLDAFPTQEG TLSPVNLTDD QIAAGLYACT NNESTLKSIM KKKDGNKDSN GAKKNLQFVG
INGGYETTSS DDSSSDESSS SESDDECDVI EYPLEEEEEE EDEDTRGMAE GHHAVNIEGL
KSARVEDEMQ VQECEPEKVE IRERYELSEK MLSACNLLKN TINDPKALTS KDMRFCLNTL
QHEWFRVSSQ KSAIPAMVGD YIAAFEAISP DVLRYVINLA DGNGNTALHY SVSHSNFEIV
KLLLDADVCN VDHQNKAGYT PIMLAALAAV EAEKDMRIVE ELFGCGDVNA KASQAGQTAL
MLAVSHGRID MVKGLLACGA DVNIQDDEGS TALMCASEHG HVEIVKLLLA QPGCNGHLED
NDGSTALSIA LEAGHKDIAV LLYAHVNFAK AQSPGTPRLG RKTSPGPTHR GSFD*
speed 0.86 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