Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999805599706 (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) chr4:156273768T>CN/A show variant in all transcripts   IGV
HGNC symbol MAP9
Ensembl transcript ID ENST00000311277
Genbank transcript ID NM_001039580
UniProt peptide Q49MG5
alteration type single base exchange
alteration region CDS
DNA changes c.1801A>G
cDNA.2065A>G
g.24355A>G
AA changes N601D Score: 23 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 601
frameshift no
known variant Reference ID: rs2305050
databasehomozygous (C/C)heterozygousallele carriers
1000G111010562166
ExAC20900-903311867
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2310.969
0.1130.953
(flanking)0.0560.953
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 increased24348wt: 0.8466 / mu: 0.8656 (marginal change - not scored)wt: AAACAAGCTATTAAT
mu: AAACAAGCTATTGAT		 ACAA|gcta
Donor gained243540.47mu: GCTATTGATGAATAT TATT|gatg
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      601AEKKDKDKQAINEYEKWLENKEKQ
mutated  all conserved    601DEYEKWLENKEK
Ptroglodytes  all conserved  ENSPTRG00000016540  601DEYEKWLENKEK
Mmulatta  no alignment  ENSMMUG00000016949  n/a
Fcatus  no alignment  ENSFCAG00000009443  n/a
Mmusculus  all conserved  ENSMUSG00000033900  600DKQAISEYEKWLEKKER
Ggallus  not conserved  ENSGALG00000020253  146AKKDEKDKMAREEYERWLGNIKR
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037276  632VEEQYEKEEKDKMALEMY
Dmelanogaster  no homologue    
Celegans  not conserved  C34D4.1  435LANEAYETWIELKES
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
443628COILEDPotential.lost
631631CONFLICTA -> T (in Ref. 4; CAH18129).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1944 / 1944
position (AA) of stopcodon in wt / mu AA sequence 648 / 648
position of stopcodon in wt / mu cDNA 2208 / 2208
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 265 / 265
chromosome 4
strand -1
last intron/exon boundary 2086
theoretical NMD boundary in CDS 1771
length of CDS 1944
coding sequence (CDS) position 1801
cDNA position
(for ins/del: last normal base / first normal base)		 2065
gDNA position
(for ins/del: last normal base / first normal base)		 24355
chromosomal position
(for ins/del: last normal base / first normal base)		 156273768
original gDNA sequence snippet ATAAAGATAAACAAGCTATTAATGAATATGAAAAATGGCTG
altered gDNA sequence snippet ATAAAGATAAACAAGCTATTGATGAATATGAAAAATGGCTG
original cDNA sequence snippet ATAAAGATAAACAAGCTATTAATGAATATGAAAAATGGCTG
altered cDNA sequence snippet ATAAAGATAAACAAGCTATTGATGAATATGAAAAATGGCTG
wildtype AA sequence MSDEVFSTTL AYTKSPKVTK RTTFQDELIR AITARSARQR SSEYSDDFDS DEIVSLGDFS
DTSADENSVN KKMNDFHISD DEEKNPSKLL FLKTNKSNGN ITKDEPVCAI KNEEEMAPDG
CEDIVVKSFS ESQNKDEEFE KDKIKMKPKP RILSIKSTSS AENNSLDTDD HFKPSPRPRS
MLKKKSHMEE KDGLEDKETA LSEELELHSA PSSLPTPNGI QLEAEKKAFS ENLDPEDSCL
TSLASSSLKQ ILGDSFSPGS EGNASGKDPN EEITENHNSL KSDENKENSF SADHVTTAVE
KSKESQVTAD DLEEEKAKAE LIMDDDRTVD PLLSKSQSIL ISTSATASSK KTIEDRNIKN
KKSTNNRASS ASARLMTSEF LKKSSSKRRT PSTTTSSHYL GTLKVLDQKP SQKQSIEPDR
ADNIRAAVYQ EWLEKKNVYL HEMHRIKRIE SENLRIQNEQ KKAAKREEAL ASFEAWKAMK
EKEAKKIAAK KRLEEKNKKK TEEENAARKG EALQAFEKWK EKKMEYLKEK NRKEREYERA
KKQKEEETVA EKKKDNLTAV EKWNEKKEAF FKQKEKEKIN EKRKEELKRA EKKDKDKQAI
NEYEKWLENK EKQERIERKQ KKRHSFLESE ALPPWSPPSR TVFAKVF*
mutated AA sequence MSDEVFSTTL AYTKSPKVTK RTTFQDELIR AITARSARQR SSEYSDDFDS DEIVSLGDFS
DTSADENSVN KKMNDFHISD DEEKNPSKLL FLKTNKSNGN ITKDEPVCAI KNEEEMAPDG
CEDIVVKSFS ESQNKDEEFE KDKIKMKPKP RILSIKSTSS AENNSLDTDD HFKPSPRPRS
MLKKKSHMEE KDGLEDKETA LSEELELHSA PSSLPTPNGI QLEAEKKAFS ENLDPEDSCL
TSLASSSLKQ ILGDSFSPGS EGNASGKDPN EEITENHNSL KSDENKENSF SADHVTTAVE
KSKESQVTAD DLEEEKAKAE LIMDDDRTVD PLLSKSQSIL ISTSATASSK KTIEDRNIKN
KKSTNNRASS ASARLMTSEF LKKSSSKRRT PSTTTSSHYL GTLKVLDQKP SQKQSIEPDR
ADNIRAAVYQ EWLEKKNVYL HEMHRIKRIE SENLRIQNEQ KKAAKREEAL ASFEAWKAMK
EKEAKKIAAK KRLEEKNKKK TEEENAARKG EALQAFEKWK EKKMEYLKEK NRKEREYERA
KKQKEEETVA EKKKDNLTAV EKWNEKKEAF FKQKEKEKIN EKRKEELKRA EKKDKDKQAI
DEYEKWLENK EKQERIERKQ KKRHSFLESE ALPPWSPPSR TVFAKVF*
speed 0.22 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