Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999998589277 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:9013755C>TN/A show variant in all transcripts   IGV
HGNC symbol A2ML1
Ensembl transcript ID ENST00000539547
Genbank transcript ID N/A
UniProt peptide A8K2U0
alteration type single base exchange
alteration region CDS
DNA changes c.1891C>T
cDNA.2059C>T
g.38688C>T
AA changes R631W Score: 101 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 631
frameshift no
known variant Reference ID: rs1860967
databasehomozygous (T/T)heterozygousallele carriers
1000G6239191542
ExAC12818713119949
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9890.427
-0.1450.282
(flanking)0.2120.285
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 increased38693wt: 0.7760 / mu: 0.8182 (marginal change - not scored)wt: CGGTGTCTCAAGAAT
mu: TGGTGTCTCAAGAAT		 GTGT|ctca
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      631DVDDPMVSQGLRCLKNSATSTTNL
mutated  not conserved    631DVDDPMVSQGLWCLKNSATSTTN
Ptroglodytes  all identical  ENSPTRG00000004645  1122DVDDPMVSQGLRCLKNSATSTTN
Mmulatta  all conserved  ENSMMUG00000022680  1120DVDDPMVSQGLQCLKNSATSTTS
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  not conserved  ENSGALG00000019254  603TPESTVVRKALGCIIPSLPKATS
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  not conserved  ZK337.1  1144ENGKAVT----YLEKHLDEVSGN
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2892 / 2892
position (AA) of stopcodon in wt / mu AA sequence 964 / 964
position of stopcodon in wt / mu cDNA 3060 / 3060
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 169 / 169
chromosome 12
strand 1
last intron/exon boundary 3062
theoretical NMD boundary in CDS 2843
length of CDS 2892
coding sequence (CDS) position 1891
cDNA position
(for ins/del: last normal base / first normal base)		 2059
gDNA position
(for ins/del: last normal base / first normal base)		 38688
chromosomal position
(for ins/del: last normal base / first normal base)		 9013755
original gDNA sequence snippet CAATGGTGAGTCAGGGTCTACGGTGTCTCAAGAATTCGGCC
altered gDNA sequence snippet CAATGGTGAGTCAGGGTCTATGGTGTCTCAAGAATTCGGCC
original cDNA sequence snippet CAATGGTGAGTCAGGGTCTACGGTGTCTCAAGAATTCGGCC
altered cDNA sequence snippet CAATGGTGAGTCAGGGTCTATGGTGTCTCAAGAATTCGGCC
wildtype AA sequence MLIGKGSLVM EGQKHLNSKK KGLKASFSLS LTFTSRLAPD PSLVIYAIFP SGGVVADKIQ
FSVEMCFDNQ VSLGFSPSQQ LPGAEVELQL QAAPGSLCAL RAVDESVLLL RPDRELSNRS
VYGMFPFWYG HYPYQVAEYD QCPVSGPWDF PQPLIDPMPQ GHSSQRSIIW RPSFSEGTDL
FSFFRDVGLK ILSNAKIKKP VDCSHRSPEY STAMGAGGGH PEAFESSTPL HQAEDSQVRQ
YFPETWLWDL FPIGNSGKEA VHVTVPDAIT EWKAMSFCTS QSRGFGLSPT VGLTAFKPFF
VDLTLPYSVV RGESFRLTAT IFNYLKDCIR VQTDLAKSHE YQLESWADSQ TSSCLCADDA
KTHHWNITAV KLGHINFTIS TKILDSNEPC GGQKGFVPQK GRSDTLIKPV LVKPEGVLVE
KTHSSLLCPK GKVASESVSL ELPVDIVPDS TKAYVTVLGD IMGTALQNLD GLVQMPSGCG
EQNMVLFAPI IYVLQYLEKA GLLTEEIRSR AVGFLEIGYQ KELMYKHSNG SYSAFGERDG
NGNTWLTAFV TKCFGQAQKF IFIDPKNIQD ALKWMAGNQL PSGCYANVGN LLHTAMKGGV
DDEVSLTAYV TAALLEMGKD VDDPMVSQGL RCLKNSATST TNLYTQALLA YIFSLAGEMD
IRNILLKQLD QQAIISGESI YWSQKPTPSS NASPWSEPAA VDVELTAYAL LAQLTKPSLT
QKEIAKATSI VAWLAKQHNA YGGFSSTQDT VVALQALAKY ATTAYMPSEE INLVVKSTEN
FQRTFNIQSV NRLVFQQDTL PNVPGMYTLE ASGQGCVYVQ TVLRYNILPP TNMKTFSLSV
EIGKARCEQP TSPRSLTLTI HTSYVGSRSS SNMAIVEVKM LSGFSPMEGT NQLLLQQPLV
KKVEFGTDTL NIYLDELIKN TQTYTFTISQ SVLVTNLKPA TIKVYDYYLP DEQATIQYSD
PCE*
mutated AA sequence MLIGKGSLVM EGQKHLNSKK KGLKASFSLS LTFTSRLAPD PSLVIYAIFP SGGVVADKIQ
FSVEMCFDNQ VSLGFSPSQQ LPGAEVELQL QAAPGSLCAL RAVDESVLLL RPDRELSNRS
VYGMFPFWYG HYPYQVAEYD QCPVSGPWDF PQPLIDPMPQ GHSSQRSIIW RPSFSEGTDL
FSFFRDVGLK ILSNAKIKKP VDCSHRSPEY STAMGAGGGH PEAFESSTPL HQAEDSQVRQ
YFPETWLWDL FPIGNSGKEA VHVTVPDAIT EWKAMSFCTS QSRGFGLSPT VGLTAFKPFF
VDLTLPYSVV RGESFRLTAT IFNYLKDCIR VQTDLAKSHE YQLESWADSQ TSSCLCADDA
KTHHWNITAV KLGHINFTIS TKILDSNEPC GGQKGFVPQK GRSDTLIKPV LVKPEGVLVE
KTHSSLLCPK GKVASESVSL ELPVDIVPDS TKAYVTVLGD IMGTALQNLD GLVQMPSGCG
EQNMVLFAPI IYVLQYLEKA GLLTEEIRSR AVGFLEIGYQ KELMYKHSNG SYSAFGERDG
NGNTWLTAFV TKCFGQAQKF IFIDPKNIQD ALKWMAGNQL PSGCYANVGN LLHTAMKGGV
DDEVSLTAYV TAALLEMGKD VDDPMVSQGL WCLKNSATST TNLYTQALLA YIFSLAGEMD
IRNILLKQLD QQAIISGESI YWSQKPTPSS NASPWSEPAA VDVELTAYAL LAQLTKPSLT
QKEIAKATSI VAWLAKQHNA YGGFSSTQDT VVALQALAKY ATTAYMPSEE INLVVKSTEN
FQRTFNIQSV NRLVFQQDTL PNVPGMYTLE ASGQGCVYVQ TVLRYNILPP TNMKTFSLSV
EIGKARCEQP TSPRSLTLTI HTSYVGSRSS SNMAIVEVKM LSGFSPMEGT NQLLLQQPLV
KKVEFGTDTL NIYLDELIKN TQTYTFTISQ SVLVTNLKPA TIKVYDYYLP DEQATIQYSD
PCE*
speed 0.44 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