Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.134412009644357 (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 CM168171)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:47282303G>AN/A show variant in all transcripts   IGV
HGNC symbol KIF9
Ensembl transcript ID ENST00000452770
Genbank transcript ID N/A
UniProt peptide Q9HAQ2
alteration type single base exchange
alteration region CDS
DNA changes c.1912C>T
cDNA.2246C>T
g.42639C>T
AA changes R638W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 638
frameshift no
known variant Reference ID: rs2276853
databasehomozygous (A/A)heterozygousallele carriers
1000G80212012003
ExAC19953-713912814

known disease mutation at this position, please check HGMD for details (HGMD ID CM168171)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.4860.806
0.460.362
(flanking)-1.5380.003
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased42631wt: 0.8929 / mu: 0.8977 (marginal change - not scored)wt: CCAGAAGTCACTACG
mu: CCAGAAGTCACTATG		 AGAA|gtca
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      638TKEALNFQKSLREKQGKYENKGLM
mutated  not conserved    638TKEALNFQKSLWEKQGKYENKGL
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000015476  637TKEALNFQKSLREKQGEYENKGL
Mmusculus  all identical  ENSMUSG00000032489  638TKDALNFQKSLREKQGEYENKGL
Ggallus  all identical  ENSGALG00000005517  632IKKALEAQRQERSQQGEYVDEKGR
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000031693  464ITSDLRQFREQRQGQGEFMSADGE
Dmelanogaster  all conserved  FBgn0040232  1850TRECEKLRFDMQSKEVQNESKVQ
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2373 / 2373
position (AA) of stopcodon in wt / mu AA sequence 791 / 791
position of stopcodon in wt / mu cDNA 2707 / 2707
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 335 / 335
chromosome 3
strand -1
last intron/exon boundary 2657
theoretical NMD boundary in CDS 2272
length of CDS 2373
coding sequence (CDS) position 1912
cDNA position
(for ins/del: last normal base / first normal base)		 2246
gDNA position
(for ins/del: last normal base / first normal base)		 42639
chromosomal position
(for ins/del: last normal base / first normal base)		 47282303
original gDNA sequence snippet TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGTAAATGT
altered gDNA sequence snippet TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGTAAATGT
original cDNA sequence snippet TGAATTTCCAGAAGTCACTACGGGAGAAGCAAGGCAAGTAC
altered cDNA sequence snippet TGAATTTCCAGAAGTCACTATGGGAGAAGCAAGGCAAGTAC
wildtype AA sequence MGTRKKVHAF VRVKPTDDFA HEMIRYGDDK RSIDIHLKKD IRRGVVNNQQ TDWSFKLDGV
LHDASQDLVY ETVAKDVVSQ ALDGYNGTIM CYGQTGAGKT YTMMGATENY KHRGILPRAL
QQVFRMIEER PTHAITVRVS YLEIYNESLF DLLSTLPYVG PSVTPMTIVE NPQGVFIKGL
SVHLTSQEED AFSLLFEGET NRIIASHTMN KNSSRSHCIF TIYLEAHSRT LSEEKYITSK
INLVDLAGSE RLGKSGSEGQ VLKEATYINK SLSFLEQAII ALGDQKRDHI PFRQCKLTHA
LKDSLGGNCN MVLVTNIYGE AAQLEETLSS LRFASRMKLV TTEPAINEKY DAERMVKNLE
KELALLKQEL AIHDSLTNRT FVTYDPMDEI QIAEINSQVR RYLEGTLDEI DIISLRQIKE
VFNQFRVVLS QQEQEVESTL RRKYTLIDRN DFAAISAIQK AGLVDVDGHL VGEPEGQNFG
LGVAPFSTKP GKKAKSKKTF KEPLSSLARK EGASSPVNGK DLDYVSTSKT QLVPSSKDGD
VKDMLSRDRE TSSIEPLPSD SPKEELRPIR PDTPPSKPVA FEEFKNEQGS EINRIFKENK
SILNERRKRA SETTQHINAI KREIDVTKEA LNFQKSLREK QGKYENKGLM IIDEEEFLLI
LKLKDLKKQY RSEYQDLRDL RAEIQYCQHL VDQCRHRLLM EFDIWYNESF VIPEDMQMAL
KPGGSIRPGM VPVNRIVSLG EDDQDKFSQL QQRVLPEGPD SISFYNAKVK IEQKHNYLKT
MMGLQQAHRK *
mutated AA sequence MGTRKKVHAF VRVKPTDDFA HEMIRYGDDK RSIDIHLKKD IRRGVVNNQQ TDWSFKLDGV
LHDASQDLVY ETVAKDVVSQ ALDGYNGTIM CYGQTGAGKT YTMMGATENY KHRGILPRAL
QQVFRMIEER PTHAITVRVS YLEIYNESLF DLLSTLPYVG PSVTPMTIVE NPQGVFIKGL
SVHLTSQEED AFSLLFEGET NRIIASHTMN KNSSRSHCIF TIYLEAHSRT LSEEKYITSK
INLVDLAGSE RLGKSGSEGQ VLKEATYINK SLSFLEQAII ALGDQKRDHI PFRQCKLTHA
LKDSLGGNCN MVLVTNIYGE AAQLEETLSS LRFASRMKLV TTEPAINEKY DAERMVKNLE
KELALLKQEL AIHDSLTNRT FVTYDPMDEI QIAEINSQVR RYLEGTLDEI DIISLRQIKE
VFNQFRVVLS QQEQEVESTL RRKYTLIDRN DFAAISAIQK AGLVDVDGHL VGEPEGQNFG
LGVAPFSTKP GKKAKSKKTF KEPLSSLARK EGASSPVNGK DLDYVSTSKT QLVPSSKDGD
VKDMLSRDRE TSSIEPLPSD SPKEELRPIR PDTPPSKPVA FEEFKNEQGS EINRIFKENK
SILNERRKRA SETTQHINAI KREIDVTKEA LNFQKSLWEK QGKYENKGLM IIDEEEFLLI
LKLKDLKKQY RSEYQDLRDL RAEIQYCQHL VDQCRHRLLM EFDIWYNESF VIPEDMQMAL
KPGGSIRPGM VPVNRIVSLG EDDQDKFSQL QQRVLPEGPD SISFYNAKVK IEQKHNYLKT
MMGLQQAHRK *
speed 1.37 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