Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0280137090596863 (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 ENST00000352910
Genbank transcript ID N/A
UniProt peptide Q9HAQ2
alteration type single base exchange
alteration region CDS
DNA changes c.1438C>T
cDNA.1719C>T
g.42639C>T
AA changes R480W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 480
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      480TKEALNFQKSLREKQGKYENKGLM
mutated  not conserved    480TKEALNFQKSLWEKQGKYENKGL
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 identical  FBgn0040232  1043TEATIN---EMREQMTNLESALL
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 1704 / 1704
position (AA) of stopcodon in wt / mu AA sequence 568 / 568
position of stopcodon in wt / mu cDNA 1985 / 1985
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 282 / 282
chromosome 3
strand -1
last intron/exon boundary 2042
theoretical NMD boundary in CDS 1710
length of CDS 1704
coding sequence (CDS) position 1438
cDNA position
(for ins/del: last normal base / first normal base)		 1719
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 MEFFTMPPRT WFMRQLQRMW FLRPSMAIMV FRMIEERPTH AITVRVSYLE IYNESLFDLL
STLPYVGPSV TPMTIVENPQ GVFIKGLSVH LTSQEEDAFS LLFEGETNRI IASHTMNKNS
SRSHCIFTIY LEAHSRTLSE EKYITSKINL VDLAGSERLG KSGSEGQVLK EATYINKSLS
FLEQAIIALG DQKRDHIPFR QCKLTHALKD SLGGNCNMVL VTNIYGEAAQ LEETLSSLRF
ASRMKLVTTE PAINEKYDAE RMVKNLEKEL ALLKQELAIH DSLTNRTFVT YDPMDEIQIA
EINSQVRRYL EGTLDEIDII SLRQIKEVFN QFRVVLSQQE QEVESTLRRK YTLIDRNDFA
AISAIQKAGL VDVDGHLVGE PEGQNFGLGV APFSTKPGKK AKSKKTFKEP LRPDTPPSKP
VAFEEFKNEQ GSEINRIFKE NKSILNERRK RASETTQHIN AIKREIDVTK EALNFQKSLR
EKQGKYENKG LMIIDEEEFL LILKLKDLKK QYRSEYQDLR DLRAEIQYCQ HLVDQCRHRL
LMGATVGKNL TSGTMSPLSS LRTCRWH*
mutated AA sequence MEFFTMPPRT WFMRQLQRMW FLRPSMAIMV FRMIEERPTH AITVRVSYLE IYNESLFDLL
STLPYVGPSV TPMTIVENPQ GVFIKGLSVH LTSQEEDAFS LLFEGETNRI IASHTMNKNS
SRSHCIFTIY LEAHSRTLSE EKYITSKINL VDLAGSERLG KSGSEGQVLK EATYINKSLS
FLEQAIIALG DQKRDHIPFR QCKLTHALKD SLGGNCNMVL VTNIYGEAAQ LEETLSSLRF
ASRMKLVTTE PAINEKYDAE RMVKNLEKEL ALLKQELAIH DSLTNRTFVT YDPMDEIQIA
EINSQVRRYL EGTLDEIDII SLRQIKEVFN QFRVVLSQQE QEVESTLRRK YTLIDRNDFA
AISAIQKAGL VDVDGHLVGE PEGQNFGLGV APFSTKPGKK AKSKKTFKEP LRPDTPPSKP
VAFEEFKNEQ GSEINRIFKE NKSILNERRK RASETTQHIN AIKREIDVTK EALNFQKSLW
EKQGKYENKG LMIIDEEEFL LILKLKDLKK QYRSEYQDLR DLRAEIQYCQ HLVDQCRHRL
LMGATVGKNL TSGTMSPLSS LRTCRWH*
speed 1.10 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