Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0162281942448937 (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 ENST00000354570
Genbank transcript ID NM_003980
UniProt peptide Q14244
alteration type single base exchange
alteration region CDS
DNA changes c.1672C>T
cDNA.1772C>T
g.189475C>T
AA changes R558W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 558
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      558QRQAEERALREREEAERAQRQKEE
mutated  not conserved    558QRQAEERALREWEEAERAQRQKE
Ptroglodytes  all identical  ENSPTRG00000018636  578LREREEAERAQRQKE
Mmulatta  no homologue    
Fcatus  no alignment  ENSFCAG00000008185  n/a
Mmusculus  all identical  ENSMUSG00000019996  548LRLAEEERERWEREEVERVQKQKE
Ggallus  all identical  ENSGALG00000013900  521REQKEREEMERIQKQKE
Trubripes  all identical  ENSTRUG00000015983  546RRQEEERCEREREEVARLQKQKEE
Drerio  all identical  ENSDARG00000054844  568MRLEEERAQREREEAERLQKQKE
Dmelanogaster  not conserved  FBgn0035500  999EEEEKQRVERE-E
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
477612COILEDPotential.lost
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 2250 / 2250
position (AA) of stopcodon in wt / mu AA sequence 750 / 750
position of stopcodon in wt / mu cDNA 2350 / 2350
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 101 / 101
chromosome 6
strand -1
last intron/exon boundary 2340
theoretical NMD boundary in CDS 2189
length of CDS 2250
coding sequence (CDS) position 1672
cDNA position
(for ins/del: last normal base / first normal base)		 1772
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 MAELGAGGDG HRGGDGAVRS ETAPDSYKVQ DKKNASSRPA SAISGQNNNH SGNKPDPPPV
LRVDDRQRLA RERREEREKQ LAAREIVWLE REERARQHYE KHLEERKKRL EEQRQKEERR
RAAVEEKRRQ RLEEDKERHE AVVRRTMERS QKPKQKHNRW SWGGSLHGSP SIHSADPDRR
SVSTMNLSKY VDPVISKRLS SSSATLLNSP DRARRLQLSP WESSVVNRLL TPTHSFLARS
KSTAALSGEA ASCSPIIMPY KAAHSRNSMD RPKLFVTPPE GSSRRRIIHG TASYKKERER
ENVLFLTSGT RRAVSPSNPK ARQPARSRLW LPSKSLPHLP GTPRPTSSLP PGSVKAAPAQ
VRPPSPGNIR PVKREVKVEP EKKDPEKEPQ KVANEPSLKG RAPLVKVEEA TVEERTPAEP
EVGPAAPAMA PAPASAPAPA SAPAPAPVPT PAMVSAPSST VNASASVKTS AGTTDPEEAT
RLLAEKRRLA REQREKEERE RREQEELERQ KREELAQRVA EERTTRREEE SRRLEAEQAR
EKEEQLQRQA EERALREREE AERAQRQKEE EARVREEAER VRQEREKHFQ REEQERLERK
KRLEEIMKRT RRTEATDKKT SDQRNGDIAK GALTGGTEVS ALPCTTNAPG NGKPVGSPHV
VTSHQSKVTV ESTPDLEKQP NENGVSVQNE NFEEIINLPI GSKPSRLDVT NSESPEIPLN
PILAFDDEGT LGPLPQVDGV QTQQTAEVI*
mutated AA sequence MAELGAGGDG HRGGDGAVRS ETAPDSYKVQ DKKNASSRPA SAISGQNNNH SGNKPDPPPV
LRVDDRQRLA RERREEREKQ LAAREIVWLE REERARQHYE KHLEERKKRL EEQRQKEERR
RAAVEEKRRQ RLEEDKERHE AVVRRTMERS QKPKQKHNRW SWGGSLHGSP SIHSADPDRR
SVSTMNLSKY VDPVISKRLS SSSATLLNSP DRARRLQLSP WESSVVNRLL TPTHSFLARS
KSTAALSGEA ASCSPIIMPY KAAHSRNSMD RPKLFVTPPE GSSRRRIIHG TASYKKERER
ENVLFLTSGT RRAVSPSNPK ARQPARSRLW LPSKSLPHLP GTPRPTSSLP PGSVKAAPAQ
VRPPSPGNIR PVKREVKVEP EKKDPEKEPQ KVANEPSLKG RAPLVKVEEA TVEERTPAEP
EVGPAAPAMA PAPASAPAPA SAPAPAPVPT PAMVSAPSST VNASASVKTS AGTTDPEEAT
RLLAEKRRLA REQREKEERE RREQEELERQ KREELAQRVA EERTTRREEE SRRLEAEQAR
EKEEQLQRQA EERALREWEE AERAQRQKEE EARVREEAER VRQEREKHFQ REEQERLERK
KRLEEIMKRT RRTEATDKKT SDQRNGDIAK GALTGGTEVS ALPCTTNAPG NGKPVGSPHV
VTSHQSKVTV ESTPDLEKQP NENGVSVQNE NFEEIINLPI GSKPSRLDVT NSESPEIPLN
PILAFDDEGT LGPLPQVDGV QTQQTAEVI*
speed 1.09 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