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MutationTaster - study a chromosomal position

 MTQE documentation
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input seems to be ok - now mapping the variant to the different transcripts...
found 1 transcript(s)...
Querying Taster for transcript #1: ENST00000393262
MT speed 0 s - this script 2.738706 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
BBS10polymorphism0.363735886565309simple_aaeR34Psingle base exchangers137852836show file

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Prediction

polymorphism

 Model: simple_aae, prob: 0.636264113434691      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM063866)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:76742038C>GN/A show variant in all transcripts   IGV
HGNC symbol BBS10
Ensembl transcript ID ENST00000393262
Genbank transcript ID NM_024685
UniProt peptide Q8TAM1
alteration type single base exchange
alteration region CDS
DNA changes c.101G>C
cDNA.185G>C
g.185G>C
AA changes R34P Score: 103 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 34
frameshift no
known variant Reference ID: rs137852836
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM063866)

known disease mutation at this position, please check HGMD for details (HGMD ID CM063866)
known disease mutation at this position, please check HGMD for details (HGMD ID CM063866)
regulatory features BCLAF1, Transcription Factor, BCLAF1 Transcription Factor Binding
CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
Gabp, Transcription Factor, Gabp TF binding
H2AZ, Histone, Histone 2A variant Z
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
PU1, Transcription Factor, PU1 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
Rad21, Transcription Factor, Rad21 Transcription Factor Binding
SP1, Transcription Factor, SP1 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
ZEB1, Transcription Factor, ZEB1 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)0.370.999
2.6281
(flanking)1.4890.997
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 increased189wt: 0.8445 / mu: 0.8529 (marginal change - not scored)wt: CGGCAAGTTTTGTGT
mu: CCGCAAGTTTTGTGT		 GCAA|gttt
distance from splice site 97
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      34AIVSCCVGPEGRQVLCTKPTGEVL
mutated  not conserved    34AIVSCCVGPEGPQVLCTKPTGEV
Ptroglodytes  all identical  ENSPTRG00000005241  34AIVSCCVGPEGRQVLCTKPTGEV
Mmulatta  all identical  ENSMMUG00000017862  34AIVSCCMGPEGRQVLCTKPTGEV
Fcatus  all identical  ENSFCAG00000014007  6VGPEGRQVLCTKPS-EV
Mmusculus  not conserved  ENSMUSG00000035759  30SIANRCVGPEGGQVLCTKPTGEV
Ggallus  no alignment  ENSGALG00000010241  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000069515  35SVVRRCLGPEGGSVLFTRDTGET
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000031389  34NIVCRCFGPEGGHVLFIKSTGDL
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2172 / 2172
position (AA) of stopcodon in wt / mu AA sequence 724 / 724
position of stopcodon in wt / mu cDNA 2256 / 2256
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 85 / 85
chromosome 12
strand -1
last intron/exon boundary 282
theoretical NMD boundary in CDS 147
length of CDS 2172
coding sequence (CDS) position 101
cDNA position
(for ins/del: last normal base / first normal base)		 185
gDNA position
(for ins/del: last normal base / first normal base)		 185
chromosomal position
(for ins/del: last normal base / first normal base)		 76742038
original gDNA sequence snippet CTGCGTGGGGCCCGAGGGACGGCAAGTTTTGTGTACGAAGC
altered gDNA sequence snippet CTGCGTGGGGCCCGAGGGACCGCAAGTTTTGTGTACGAAGC
original cDNA sequence snippet CTGCGTGGGGCCCGAGGGACGGCAAGTTTTGTGTACGAAGC
altered cDNA sequence snippet CTGCGTGGGGCCCGAGGGACCGCAAGTTTTGTGTACGAAGC
wildtype AA sequence MLSSMAAAGS VKAALQVAEV LEAIVSCCVG PEGRQVLCTK PTGEVLLSRN GGRLLEALHL
EHPIARMIVD CVSSHLKKTG DGAKTFIIFL CHLLRGLHAI TDREKDPLMC ENIQTHGRHW
KNCSRWKFIS QALLTFQTQI LDGIMDQYLS RHFLSIFSSA KERTLCRSSL ELLLEAYFCG
RVGRNNHKFI SQLMCDYFFK CMTCKSGIGV FELVDDHFVE LNVGVTGLPV SDSRIIAGLV
LQKDFSVYRP ADGDMRMVIV TETIQPLFST SGSEFILNSE AQFQTSQFWI MEKTKAIMKH
LHSQNVKLLI SSVKQPDLVS YYAGVNGISV VECLSSEEVS LIRRIIGLSP FVPPQAFSQC
EIPNTALVKF CKPLILRSKR YVHLGLISTC AFIPHSIVLC GPVHGLIEQH EDALHGALKM
LRQLFKDLDL NYMTQTNDQN GTSSLFIYKN SGESYQAPDP GNGSIQRPYQ DTVAENKDAL
EKTQTYLKVH SNLVIPDVEL ETYIPYSTPT LTPTDTFQTV ETLTCLSLER NRLTDYYEPL
LKNNSTAYST RGNRIEISYE NLQVTNITRK GSMLPVSCKL PNMGTSQSYL SSSMPAGCVL
PVGGNFEILL HYYLLNYAKK CHQSEETMVS MIIANALLGI PKVLYKSKTG KYSFPHTYIR
AVHALQTNQP LVSSQTGLES VMGKYQLLTS VLQCLTKILT IDMVITVKRH PQKVHNQDSE
DEL*
mutated AA sequence MLSSMAAAGS VKAALQVAEV LEAIVSCCVG PEGPQVLCTK PTGEVLLSRN GGRLLEALHL
EHPIARMIVD CVSSHLKKTG DGAKTFIIFL CHLLRGLHAI TDREKDPLMC ENIQTHGRHW
KNCSRWKFIS QALLTFQTQI LDGIMDQYLS RHFLSIFSSA KERTLCRSSL ELLLEAYFCG
RVGRNNHKFI SQLMCDYFFK CMTCKSGIGV FELVDDHFVE LNVGVTGLPV SDSRIIAGLV
LQKDFSVYRP ADGDMRMVIV TETIQPLFST SGSEFILNSE AQFQTSQFWI MEKTKAIMKH
LHSQNVKLLI SSVKQPDLVS YYAGVNGISV VECLSSEEVS LIRRIIGLSP FVPPQAFSQC
EIPNTALVKF CKPLILRSKR YVHLGLISTC AFIPHSIVLC GPVHGLIEQH EDALHGALKM
LRQLFKDLDL NYMTQTNDQN GTSSLFIYKN SGESYQAPDP GNGSIQRPYQ DTVAENKDAL
EKTQTYLKVH SNLVIPDVEL ETYIPYSTPT LTPTDTFQTV ETLTCLSLER NRLTDYYEPL
LKNNSTAYST RGNRIEISYE NLQVTNITRK GSMLPVSCKL PNMGTSQSYL SSSMPAGCVL
PVGGNFEILL HYYLLNYAKK CHQSEETMVS MIIANALLGI PKVLYKSKTG KYSFPHTYIR
AVHALQTNQP LVSSQTGLES VMGKYQLLTS VLQCLTKILT IDMVITVKRH PQKVHNQDSE
DEL*
speed 0.73 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
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