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mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998992 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM174300)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:38062217C>TN/A show variant in all transcripts   IGV
HGNC symbol GSDMB
Ensembl transcript ID ENST00000394179
Genbank transcript ID N/A
UniProt peptide Q8TAX9
alteration type single base exchange
alteration region CDS
DNA changes c.895G>A
cDNA.1026G>A
g.15097G>A
AA changes G299R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 299
frameshift no
known variant Reference ID: rs2305479
databasehomozygous (T/T)heterozygousallele carriers
1000G2839921275
ExAC11597957321170

known disease mutation at this position, please check HGMD for details (HGMD ID CM174300)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1330
-0.7190
(flanking)-1.6090
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 increased15097wt: 0.3109 / mu: 0.3365 (marginal change - not scored)wt: TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
mu: TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC		 tccg|GGGA
Acc marginally increased15098wt: 0.6861 / mu: 0.6928 (marginal change - not scored)wt: ATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGACC
mu: ATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGACC		 ccgg|GGAG
Donor increased15097wt: 0.35 / mu: 0.77wt: TTTCCGGGGAGCTAC
mu: TTTCCAGGGAGCTAC		 TCCG|ggga
Donor increased15101wt: 0.44 / mu: 0.72wt: CGGGGAGCTACACAT
mu: CAGGGAGCTACACAT		 GGGA|gcta
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      299LEQRVSEVLISGELHMEDPDKPLL
mutated  not conserved    299LEQRVSEVLISRELHMEDPDKPL
Ptroglodytes  not conserved  ENSPTRG00000009106  291LEQRVSEVLISRELHMEDPDKPL
Mmulatta  all identical  ENSMMUG00000004587  231LEQKISEVLIFGELQMEDPVNPL
Fcatus  all identical  ENSFCAG00000014987  280LE-RVSEALISGDL--EGPADPL
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000013495  304LSGKASRM----EAVLDDPDNCELTTQSPDLEVL
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1236 / 1236
position (AA) of stopcodon in wt / mu AA sequence 412 / 412
position of stopcodon in wt / mu cDNA 1367 / 1367
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 132 / 132
chromosome 17
strand -1
last intron/exon boundary 1215
theoretical NMD boundary in CDS 1033
length of CDS 1236
coding sequence (CDS) position 895
cDNA position
(for ins/del: last normal base / first normal base)		 1026
gDNA position
(for ins/del: last normal base / first normal base)		 15097
chromosomal position
(for ins/del: last normal base / first normal base)		 38062217
original gDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered gDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
original cDNA sequence snippet TATCTGAGGTCCTGATTTCCGGGGAGCTACACATGGAGGAC
altered cDNA sequence snippet TATCTGAGGTCCTGATTTCCAGGGAGCTACACATGGAGGAC
wildtype AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM SAGLDIHFRG KTKSFPEGKS
LGSEDSRNMK EKLEDMESVL KDLTEEKRKD VLNSLAKCLG KEDIRQDLEQ RVSEVLISGE
LHMEDPDKPL LSSLFNAAGV LVEARAKAIL DFLDALLELS EEQQFVAEAL EKGTLPLLKD
QVKSVMEQNW DELASSPPDM DYDPEARILC ALYVVVSILL ELAEGPTSVS S*
mutated AA sequence MFSVFEEITR IVVKEMDAGG DMIAVRSLVD ADRFRCFHLV GEKRTFFGCR HYTTGLTLMD
ILDTDGDKWL DELDSGLQGQ KAEFQILDNV DSTGELIVRL PKEITISGSF QGFHHQKIKI
SENRISQQYL ATLENRKLKR ELPFSFRSIN TRENLYLVTE TLETVKEETL KSDRQYKFWS
QISQGHLSYK HKGQREVTIP PNRVLSYRVK QLVFPNKETM SAGLDIHFRG KTKSFPEGKS
LGSEDSRNMK EKLEDMESVL KDLTEEKRKD VLNSLAKCLG KEDIRQDLEQ RVSEVLISRE
LHMEDPDKPL LSSLFNAAGV LVEARAKAIL DFLDALLELS EEQQFVAEAL EKGTLPLLKD
QVKSVMEQNW DELASSPPDM DYDPEARILC ALYVVVSILL ELAEGPTSVS S*
speed 1.11 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