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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: ENST00000435159
MT speed 1.57 s - this script 5.597662 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TMEM132Cpolymorphism_automatic1.34500188764264e-11simple_aaeaffectedH161Rsingle base exchangers11059681show file

Taster files

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documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.99999999998655 (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) chr12:128899673A>GN/A show variant in all transcripts   IGV
HGNC symbol TMEM132C
Ensembl transcript ID ENST00000435159
Genbank transcript ID NM_001136103
UniProt peptide Q8N3T6
alteration type single base exchange
alteration region CDS
DNA changes c.482A>G
cDNA.482A>G
g.147726A>G
AA changes H161R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
161
frameshift no
known variant Reference ID: rs11059681
databasehomozygous (G/G)heterozygousallele carriers
1000G38111281509
ExAC103221212322445
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.3170.02
-0.4040
(flanking)0.2330
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained1477250.97mu: ATGACCGCGGCGCCG GACC|gcgg
distance from splice site 397
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      161LFHIMGRDWDDHGAGEKLPCLRVF
mutated  not conserved    161LFHIMGRDWDDRGAGEKLPCLRV
Ptroglodytes  not conserved  ENSPTRG00000005627  161LFHIVGRDWDDRSAGEKLPCLRV
Mmulatta  no homologue    
Fcatus  no alignment  ENSFCAG00000001691  n/a
Mmusculus  all identical  ENSMUSG00000034324  168LFHIVGRDWDDH-RDEKLPCLRV
Ggallus  all conserved  ENSGALG00000002714  133LFYIVGRDWDDYSTTERLPCLRV
Trubripes  not conserved  ENSTRUG00000016878  230VF-MLGADWQADITHLVLDQLKV
Drerio  no alignment  ENSDARG00000062538  n/a
Dmelanogaster  all identical  FBgn0262730  158PGGHLQRQKVCVLLH
Celegans  no alignment  Y71H2AM.10  n/a
Xtropicalis  all conserved  ENSXETG00000022175  135LFYIAGRDWDNYSATEKLPCLRL
protein features
start (aa)end (aa)featuredetails 
28922TOPO_DOMExtracellular (Potential).lost
316316CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
373373CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
923943TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
9441108TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3327 / 3327
position (AA) of stopcodon in wt / mu AA sequence 1109 / 1109
position of stopcodon in wt / mu cDNA 3327 / 3327
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 1 / 1
chromosome 12
strand 1
last intron/exon boundary 2122
theoretical NMD boundary in CDS 2071
length of CDS 3327
coding sequence (CDS) position 482
cDNA position
(for ins/del: last normal base / first normal base)
482
gDNA position
(for ins/del: last normal base / first normal base)
147726
chromosomal position
(for ins/del: last normal base / first normal base)
128899673
original gDNA sequence snippet GGGCAGAGACTGGGATGACCACGGCGCCGGGGAGAAGCTGC
altered gDNA sequence snippet GGGCAGAGACTGGGATGACCGCGGCGCCGGGGAGAAGCTGC
original cDNA sequence snippet GGGCAGAGACTGGGATGACCACGGCGCCGGGGAGAAGCTGC
altered cDNA sequence snippet GGGCAGAGACTGGGATGACCGCGGCGCCGGGGAGAAGCTGC
wildtype AA sequence MRSEGAAPGP AAPLCGALSL LLGALLGKVI EGHGVTDNIQ RFSSLPPYLP VSYHILRAET
SFFLKEANQD LLRNSSLQAR VESFFTYKTR QPPVLNASYG PFSVEKVVPL DLMLTSNFLG
PTNKFSFDWK LKAHILRDKV YLSRPKVQVL FHIMGRDWDD HGAGEKLPCL RVFAFRETRE
VRGSCRLKGD LGLCVAELEL LSSWFSAPTV GAGRKKSMDQ PEGTPVELYY TVHPGNERGD
CAGGDFRKGN AIRPGKDGLE ETTSHLQRIG TVGLYRAQDS AQLSELRLDG NVVIWLPSRP
VKQGEVVTAY VTISSNSSVD LFILRAKVKK GVNILSAQTR EPRQWGVKQE VGSGGKHVTA
TVACQRLGPS PRNRSSSLFN EVVQMNFEIA SFSSLSGTQP ITWQVEYPRK GTTDIAVSEI
FVSQKDLVGI VPLAMDTEIL NTAVLTGKTV AMPIKVVSVE ENSAVMDISE SVECKSTDED
VIKVSERCDY IFVNGKEIKG KMDAVVNFTY QYLSAPLCVT VWVPRLPLQI EVSDTELSQI
KGWRVPIVTN KRPTRESEDE DEEERRGRGC ALQYQHATVR VLTQFVSEGA GPWGQPNYLL
SPNWQFDITH LVADFMKLEE PHVATLQDSR VLVGREVGMT TIQVLSPLSD SILAEKTITV
LDDKVSVTDL AIQLVAGLSV ALYPNAENSK AVTAVVTAEE VLRTPKQEAV FSTWLQFSDG
SVTPLDIYDT KDFSLAATSQ DEAVVSVPQP RSPRWPVVVA EGEGQGPLIR VDMTIAEACQ
KSKRKSILAV GVGNVRVKFG QNDADSSPGG DYEEDEIKNH ASDRRQKGQH HERTGQDGHL
YGSSPVEREE GALRRATTTA RSLLDNKVVK NSRADGGRLA GEGQLQNIPI DFTNFPAHVD
LPKAGSGLEE NDLVQTPRGL SDLEIGMYAL LGVFCLAILV FLINCATFAL KYRHKQVPLE
GQASMTHSHD WVWLGNEAEL LESMGDAPPP QDEHTTIIDR GPGACEESNH LLLNGGSHKH
VQSQIHRSAD SGGRQGREQK QDPLHSPTSK RKKVKFTTFT TIPPDDSCPT VNSIVSSNDE
DIKWVCQDVA VGAPKELRNY LEKLKDKA*
mutated AA sequence MRSEGAAPGP AAPLCGALSL LLGALLGKVI EGHGVTDNIQ RFSSLPPYLP VSYHILRAET
SFFLKEANQD LLRNSSLQAR VESFFTYKTR QPPVLNASYG PFSVEKVVPL DLMLTSNFLG
PTNKFSFDWK LKAHILRDKV YLSRPKVQVL FHIMGRDWDD RGAGEKLPCL RVFAFRETRE
VRGSCRLKGD LGLCVAELEL LSSWFSAPTV GAGRKKSMDQ PEGTPVELYY TVHPGNERGD
CAGGDFRKGN AIRPGKDGLE ETTSHLQRIG TVGLYRAQDS AQLSELRLDG NVVIWLPSRP
VKQGEVVTAY VTISSNSSVD LFILRAKVKK GVNILSAQTR EPRQWGVKQE VGSGGKHVTA
TVACQRLGPS PRNRSSSLFN EVVQMNFEIA SFSSLSGTQP ITWQVEYPRK GTTDIAVSEI
FVSQKDLVGI VPLAMDTEIL NTAVLTGKTV AMPIKVVSVE ENSAVMDISE SVECKSTDED
VIKVSERCDY IFVNGKEIKG KMDAVVNFTY QYLSAPLCVT VWVPRLPLQI EVSDTELSQI
KGWRVPIVTN KRPTRESEDE DEEERRGRGC ALQYQHATVR VLTQFVSEGA GPWGQPNYLL
SPNWQFDITH LVADFMKLEE PHVATLQDSR VLVGREVGMT TIQVLSPLSD SILAEKTITV
LDDKVSVTDL AIQLVAGLSV ALYPNAENSK AVTAVVTAEE VLRTPKQEAV FSTWLQFSDG
SVTPLDIYDT KDFSLAATSQ DEAVVSVPQP RSPRWPVVVA EGEGQGPLIR VDMTIAEACQ
KSKRKSILAV GVGNVRVKFG QNDADSSPGG DYEEDEIKNH ASDRRQKGQH HERTGQDGHL
YGSSPVEREE GALRRATTTA RSLLDNKVVK NSRADGGRLA GEGQLQNIPI DFTNFPAHVD
LPKAGSGLEE NDLVQTPRGL SDLEIGMYAL LGVFCLAILV FLINCATFAL KYRHKQVPLE
GQASMTHSHD WVWLGNEAEL LESMGDAPPP QDEHTTIIDR GPGACEESNH LLLNGGSHKH
VQSQIHRSAD SGGRQGREQK QDPLHSPTSK RKKVKFTTFT TIPPDDSCPT VNSIVSSNDE
DIKWVCQDVA VGAPKELRNY LEKLKDKA*
speed 1.57 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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Problems