Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0214708289960294 (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) chr6:136682172G>AN/A show variant in all transcripts   IGV
HGNC symbol MAP7
Ensembl transcript ID ENST00000432797
Genbank transcript ID NM_001198618
UniProt peptide Q14244
alteration type single base exchange
alteration region CDS
DNA changes c.1234C>T
cDNA.1850C>T
g.189475C>T
AA changes R412W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 412
frameshift no
known variant Reference ID: rs2076190
databasehomozygous (A/A)heterozygousallele carriers
1000G15118422353
ExAC25335-179037432
regulatory features Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Znf263, Transcription Factor, Znf263 TF binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9220.998
0.8580.997
(flanking)0.2640.994
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1894680.62mu: GCGCTGCGCGAGTGG GCTG|cgcg
distance from splice site 30
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      412QRQAEERALREREEAERAQRQKEE
mutated  not conserved    412QRQAEERALREWEEAERAQR
Ptroglodytes  all identical  ENSPTRG00000018636  579QRQAEERALREREEAERAQR
Mmulatta  no homologue    
Fcatus  no alignment  ENSFCAG00000008185  n/a
Mmusculus  all identical  ENSMUSG00000019996  549EREEVERVQKQKE
Ggallus  all identical  ENSGALG00000013900  521EREEMERIQKQKE
Trubripes  all identical  ENSTRUG00000015983  547RRQEEERCEREREEVARLQKQKE
Drerio  all identical  ENSDARG00000054844  570MRLEEERAQREREEAERLQK
Dmelanogaster  not conserved  FBgn0035500  999EEEEKQRVERE-E
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
316451COMPBIASPro-rich.lost
477612COILEDPotential.might get lost (downstream of altered splice site)
672672MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
673673MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1812 / 1812
position (AA) of stopcodon in wt / mu AA sequence 604 / 604
position of stopcodon in wt / mu cDNA 2428 / 2428
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 617 / 617
chromosome 6
strand -1
last intron/exon boundary 2418
theoretical NMD boundary in CDS 1751
length of CDS 1812
coding sequence (CDS) position 1234
cDNA position
(for ins/del: last normal base / first normal base)		 1850
gDNA position
(for ins/del: last normal base / first normal base)		 189475
chromosomal position
(for ins/del: last normal base / first normal base)		 136682172
original gDNA sequence snippet AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC
altered gDNA sequence snippet AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC
original cDNA sequence snippet AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC
altered cDNA sequence snippet AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC
wildtype AA sequence MERSQKPKQK HNRWSWGGSL HGSPSIHSAD PDRRSVSTMN LSKYVDPVIS KRLSSSSATL
LNSPDRARRL QLSPWESSVV NRLLTPTHSF LARSKSTAAL SGEAASCSPI IMPYKAAHSR
NSMDRPKLFV TPPEGSSRRR IIHGTASYKK ERERENVLFL TSGTRRAVSP SNPKARQPAR
SRLWLPSKSL PHLPGTPRPT SSLPPGSVKA APAQVRPPSP GNIRPVKREV KVEPEKKDPE
KEPQKVANEP SLKGRAPLVK VEEATVEERT PAEPEVGPAA PAMAPAPASA PAPASAPAPA
PVPTPAMVSA PSSTVNASAS VKTSAGTTDP EEATRLLAEK RRLAREQREK EERERREQEE
LERQKREELA QRVAEERTTR REEESRRLEA EQAREKEEQL QRQAEERALR EREEAERAQR
QKEEEARVRE EAERVRQERE KHFQREEQER LERKKRLEEI MKRTRRTEAT DKKTSDQRNG
DIAKGALTGG TEVSALPCTT NAPGNGKPVG SPHVVTSHQS KVTVESTPDL EKQPNENGVS
VQNENFEEII NLPIGSKPSR LDVTNSESPE IPLNPILAFD DEGTLGPLPQ VDGVQTQQTA
EVI*
mutated AA sequence MERSQKPKQK HNRWSWGGSL HGSPSIHSAD PDRRSVSTMN LSKYVDPVIS KRLSSSSATL
LNSPDRARRL QLSPWESSVV NRLLTPTHSF LARSKSTAAL SGEAASCSPI IMPYKAAHSR
NSMDRPKLFV TPPEGSSRRR IIHGTASYKK ERERENVLFL TSGTRRAVSP SNPKARQPAR
SRLWLPSKSL PHLPGTPRPT SSLPPGSVKA APAQVRPPSP GNIRPVKREV KVEPEKKDPE
KEPQKVANEP SLKGRAPLVK VEEATVEERT PAEPEVGPAA PAMAPAPASA PAPASAPAPA
PVPTPAMVSA PSSTVNASAS VKTSAGTTDP EEATRLLAEK RRLAREQREK EERERREQEE
LERQKREELA QRVAEERTTR REEESRRLEA EQAREKEEQL QRQAEERALR EWEEAERAQR
QKEEEARVRE EAERVRQERE KHFQREEQER LERKKRLEEI MKRTRRTEAT DKKTSDQRNG
DIAKGALTGG TEVSALPCTT NAPGNGKPVG SPHVVTSHQS KVTVESTPDL EKQPNENGVS
VQNENFEEII NLPIGSKPSR LDVTNSESPE IPLNPILAFD DEGTLGPLPQ VDGVQTQQTA
EVI*
speed 1.20 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