Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999966224 (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
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analysed issue analysis result
name of alteration no title
alteration (phys. location) chr4:47514685C>TN/A show variant in all transcripts   IGV
HGNC symbol ATP10D
Ensembl transcript ID ENST00000504445
Genbank transcript ID N/A
UniProt peptide Q9P241
alteration type single base exchange
alteration region CDS
DNA changes c.128C>T
cDNA.386C>T
g.27381C>T
AA changes T43I Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 43
frameshift no
known variant Reference ID: rs33995001
databasehomozygous (T/T)heterozygousallele carriers
1000G2879531240
ExAC96861339523081
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3140
0.3070
(flanking)0.270.001
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 increased27387wt: 0.3620 / mu: 0.3834 (marginal change - not scored)wt: CAAGTCCTCTCAGACCCCTAAACTGTCAGGAAGGCACCGGA
mu: CAAGTCCTCTCAGATCCCTAAACTGTCAGGAAGGCACCGGA		 ctaa|ACTG
Donor marginally increased27383wt: 0.7489 / mu: 0.7562 (marginal change - not scored)wt: AGACCCCTAAACTGT
mu: AGATCCCTAAACTGT		 ACCC|ctaa
distance from splice site 163
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      43SLLACGRKSSQTPKLSGRHRIVVP
mutated  not conserved    43SLLACGRKSSQIPKLSGRHRIVV
Ptroglodytes  all identical  ENSPTRG00000016032  43SLLACGRKSSQTPKLSGRHRIVV
Mmulatta  all identical  ENSMMUG00000021778  43SLLACGRKSLQTPKLAGRHRIVV
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000078887  42SLPPKSSQDAQDPQVQRLSGKRRVVV
Dmelanogaster  no alignment  FBgn0032120  n/a
Celegans  all identical  W09D10.2  74TQPMLPQQRLVV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
197TOPO_DOMCytoplasmic (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1608 / 1608
position (AA) of stopcodon in wt / mu AA sequence 536 / 536
position of stopcodon in wt / mu cDNA 1866 / 1866
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 259 / 259
chromosome 4
strand 1
last intron/exon boundary 1610
theoretical NMD boundary in CDS 1301
length of CDS 1608
coding sequence (CDS) position 128
cDNA position
(for ins/del: last normal base / first normal base)		 386
gDNA position
(for ins/del: last normal base / first normal base)		 27381
chromosomal position
(for ins/del: last normal base / first normal base)		 47514685
original gDNA sequence snippet TGGGCGCAAGTCCTCTCAGACCCCTAAACTGTCAGGAAGGC
altered gDNA sequence snippet TGGGCGCAAGTCCTCTCAGATCCCTAAACTGTCAGGAAGGC
original cDNA sequence snippet TGGGCGCAAGTCCTCTCAGACCCCTAAACTGTCAGGAAGGC
altered cDNA sequence snippet TGGGCGCAAGTCCTCTCAGATCCCTAAACTGTCAGGAAGGC
wildtype AA sequence MTEALQWARY HWRRLIRGAT RDDDSGPYNY SSLLACGRKS SQTPKLSGRH RIVVPHIQPF
KDEYEKFSGA YVNNRIRTTK YTLLNFVPRN LFEQFHRAAN LYFLFLVVLN WVPLVEAFQK
EITMLPLVVV LTIIAIKDGL EDYRKYKIDK QINNLITKVY SRKEKKYIDR CWKDVTVGDF
IRLSCNEVIP ADMVLLFSTD PDGICHIETS GLDGESNLKQ RQVVRGYAEQ DSEVDPEKFS
SRIECESPNN DLSRFRGFLE HSNKERVGLS KENLLLRGCT IRNTEAVVGI VVYAGHETKA
MLNNSGPRYK RSKLERRANT DVLWCVMLLV IMCLTGAVGH GIWLSRYEKM HFFNVPEPDG
HIISPLLAGF YMFWTMIILL QLGQIYFIQS DVDFYNEKMD SIVQCRALNI AEDLGQIQYL
FSDKTGTLTE NKMVFRRCSV AGFDYCHEEN ARRLESYQEA VSEDEDFIDT VSGSLSNMAK
PRAPSCRTVH NGPLGNKPSN HLAGSSFTLG SGEGASEVPH SRQAAFSSPI VSMNA*
mutated AA sequence MTEALQWARY HWRRLIRGAT RDDDSGPYNY SSLLACGRKS SQIPKLSGRH RIVVPHIQPF
KDEYEKFSGA YVNNRIRTTK YTLLNFVPRN LFEQFHRAAN LYFLFLVVLN WVPLVEAFQK
EITMLPLVVV LTIIAIKDGL EDYRKYKIDK QINNLITKVY SRKEKKYIDR CWKDVTVGDF
IRLSCNEVIP ADMVLLFSTD PDGICHIETS GLDGESNLKQ RQVVRGYAEQ DSEVDPEKFS
SRIECESPNN DLSRFRGFLE HSNKERVGLS KENLLLRGCT IRNTEAVVGI VVYAGHETKA
MLNNSGPRYK RSKLERRANT DVLWCVMLLV IMCLTGAVGH GIWLSRYEKM HFFNVPEPDG
HIISPLLAGF YMFWTMIILL QLGQIYFIQS DVDFYNEKMD SIVQCRALNI AEDLGQIQYL
FSDKTGTLTE NKMVFRRCSV AGFDYCHEEN ARRLESYQEA VSEDEDFIDT VSGSLSNMAK
PRAPSCRTVH NGPLGNKPSN HLAGSSFTLG SGEGASEVPH SRQAAFSSPI VSMNA*
speed 0.95 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