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 ENST00000544465
Genbank transcript ID NM_001198615
UniProt peptide Q14244
alteration type single base exchange
alteration region CDS
DNA changes c.1627C>T
cDNA.1720C>T
g.189475C>T
AA changes R543W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 543
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      543QRQAEERALREREEAERAQRQKEE
mutated  not conserved    543REWEEAERAQRQKE
Ptroglodytes  all identical  ENSPTRG00000018636  579QRQAEERALREREEAE
Mmulatta  no homologue    
Fcatus  no alignment  ENSFCAG00000008185  n/a
Mmusculus  all identical  ENSMUSG00000019996  548RWEREEVERVQKQKE
Ggallus  all identical  ENSGALG00000013900  521REEMERIQKQKE
Trubripes  all identical  ENSTRUG00000015983  546RRQEEERCEREREEVARLQKQKEE
Drerio  all identical  ENSDARG00000054844  570MRLEEERAQREREEAE
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 2205 / 2205
position (AA) of stopcodon in wt / mu AA sequence 735 / 735
position of stopcodon in wt / mu cDNA 2298 / 2298
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 94 / 94
chromosome 6
strand -1
last intron/exon boundary 2288
theoretical NMD boundary in CDS 2144
length of CDS 2205
coding sequence (CDS) position 1627
cDNA position
(for ins/del: last normal base / first normal base)		 1720
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 MEDTKLYSPD SYKVQDKKNA SSRPASAISG QNNNHSGNKP DPPPVLRVDD RQRLARERRE
EREKQLAARE IVWLEREERA RQHYEKHLEE RKKRLEEQRQ KEERRRAAVE EKRRQRLEED
KERHEAVVRR TMERSQKPKQ KHNRWSWGGS LHGSPSIHSA DPDRRSVSTM NLSKYVDPVI
SKRLSSSSAT LLNSPDRARR LQLSPWESSV VNRLLTPTHS FLARSKSTAA LSGEAASCSP
IIMPYKAAHS RNSMDRPKLF VTPPEGSSRR RIIHGTASYK KERERENVLF LTSGTRRAVS
PSNPKARQPA RSRLWLPSKS LPHLPGTPRP TSSLPPGSVK AAPAQVRPPS PGNIRPVKRE
VKVEPEKKDP EKEPQKVANE PSLKGRAPLV KVEEATVEER TPAEPEVGPA APAMAPAPAS
APAPASAPAP APVPTPAMVS APSSTVNASA SVKTSAGTTD PEEATRLLAE KRRLAREQRE
KEERERREQE ELERQKREEL AQRVAEERTT RREEESRRLE AEQAREKEEQ LQRQAEERAL
REREEAERAQ RQKEEEARVR EEAERVRQER EKHFQREEQE RLERKKRLEE IMKRTRRTEA
TDKKTSDQRN GDIAKGALTG GTEVSALPCT TNAPGNGKPV GSPHVVTSHQ SKVTVESTPD
LEKQPNENGV SVQNENFEEI INLPIGSKPS RLDVTNSESP EIPLNPILAF DDEGTLGPLP
QVDGVQTQQT AEVI*
mutated AA sequence MEDTKLYSPD SYKVQDKKNA SSRPASAISG QNNNHSGNKP DPPPVLRVDD RQRLARERRE
EREKQLAARE IVWLEREERA RQHYEKHLEE RKKRLEEQRQ KEERRRAAVE EKRRQRLEED
KERHEAVVRR TMERSQKPKQ KHNRWSWGGS LHGSPSIHSA DPDRRSVSTM NLSKYVDPVI
SKRLSSSSAT LLNSPDRARR LQLSPWESSV VNRLLTPTHS FLARSKSTAA LSGEAASCSP
IIMPYKAAHS RNSMDRPKLF VTPPEGSSRR RIIHGTASYK KERERENVLF LTSGTRRAVS
PSNPKARQPA RSRLWLPSKS LPHLPGTPRP TSSLPPGSVK AAPAQVRPPS PGNIRPVKRE
VKVEPEKKDP EKEPQKVANE PSLKGRAPLV KVEEATVEER TPAEPEVGPA APAMAPAPAS
APAPASAPAP APVPTPAMVS APSSTVNASA SVKTSAGTTD PEEATRLLAE KRRLAREQRE
KEERERREQE ELERQKREEL AQRVAEERTT RREEESRRLE AEQAREKEEQ LQRQAEERAL
REWEEAERAQ RQKEEEARVR EEAERVRQER EKHFQREEQE RLERKKRLEE IMKRTRRTEA
TDKKTSDQRN GDIAKGALTG GTEVSALPCT TNAPGNGKPV GSPHVVTSHQ SKVTVESTPD
LEKQPNENGV SVQNENFEEI INLPIGSKPS RLDVTNSESP EIPLNPILAF DDEGTLGPLP
QVDGVQTQQT AEVI*
speed 1.19 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