Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.643555155706814 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:150490376C>TN/A show variant in all transcripts   IGV
HGNC symbol TMEM176B
Ensembl transcript ID ENST00000447204
Genbank transcript ID NM_014020
UniProt peptide Q3YBM2
alteration type single base exchange
alteration region CDS
DNA changes c.400G>A
cDNA.773G>A
g.8075G>A
AA changes A134T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 134
frameshift no
known variant Reference ID: rs2072443
databasehomozygous (T/T)heterozygousallele carriers
1000G46411131577
ExAC107201132722047
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2920.96
0.6530.971
(flanking)1.380.977
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8078wt: 0.6832 / mu: 0.7124 (marginal change - not scored)wt: CCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATGGCT
mu: CCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATGGCT		 gcag|GCTT
Acc marginally increased8072wt: 0.5139 / mu: 0.5149 (marginal change - not scored)wt: ATATATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCT
mu: ATATATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCT		 accc|TGGC
Donor marginally increased8073wt: 0.8601 / mu: 0.9180 (marginal change - not scored)wt: CACCCTGGCAGGCTT
mu: CACCCTGACAGGCTT		 CCCT|ggca
distance from splice site 28
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      134LAGYISSLLTLAGFATAMAAVVLC
mutated  not conserved    134LAGYISSLLTLTGFATAMAAVVL
Ptroglodytes  all identical  ENSPTRG00000019863  134LAGYISSLLTLAGFATAMAAVVL
Mmulatta  all identical  ENSMMUG00000008596  134LAGYVSILLTLAAFATAMAAVVL
Fcatus  all identical  ENSFCAG00000013796  134LSGCISGLLMLAGVATAMAAVVL
Mmusculus  all identical  ENSMUSG00000029810  128LSGQVSCLLLLACIATAAAATVL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
127147TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 813 / 813
position (AA) of stopcodon in wt / mu AA sequence 271 / 271
position of stopcodon in wt / mu cDNA 1186 / 1186
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 374 / 374
chromosome 7
strand -1
last intron/exon boundary 1094
theoretical NMD boundary in CDS 670
length of CDS 813
coding sequence (CDS) position 400
cDNA position
(for ins/del: last normal base / first normal base)		 773
gDNA position
(for ins/del: last normal base / first normal base)		 8075
chromosomal position
(for ins/del: last normal base / first normal base)		 150490376
original gDNA sequence snippet TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG
altered gDNA sequence snippet TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG
original cDNA sequence snippet TATCCAGCCTGCTCACCCTGGCAGGCTTTGCTACAGCTATG
altered cDNA sequence snippet TATCCAGCCTGCTCACCCTGACAGGCTTTGCTACAGCTATG
wildtype AA sequence MTQNTVIVNG VAMASRPSQP THVNVHIHQE SALTQLLKAG GSLKKFLFHP GDTVPSTARI
GYEQLALGVT QILLGVVSCV LGVCLSLGPW TVLSASGCAF WAGSVVIAAG AGAIVHEKHP
GKLAGYISSL LTLAGFATAM AAVVLCVNSF IWQTEPFLYI DTVCDRSDPV FPTTGYRWMR
RSQENQWQKE ECRAYMQMLR KLFTAIRALF LAVCVLKVIV SLVSLGVGLR NLCGQSSQPL
NEEGSEKRLL GENSVPPSPS REQTSTAIVL *
mutated AA sequence MTQNTVIVNG VAMASRPSQP THVNVHIHQE SALTQLLKAG GSLKKFLFHP GDTVPSTARI
GYEQLALGVT QILLGVVSCV LGVCLSLGPW TVLSASGCAF WAGSVVIAAG AGAIVHEKHP
GKLAGYISSL LTLTGFATAM AAVVLCVNSF IWQTEPFLYI DTVCDRSDPV FPTTGYRWMR
RSQENQWQKE ECRAYMQMLR KLFTAIRALF LAVCVLKVIV SLVSLGVGLR NLCGQSSQPL
NEEGSEKRLL GENSVPPSPS REQTSTAIVL *
speed 0.55 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