Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998906 (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) chr19:33355055A>GN/A show variant in all transcripts   IGV
HGNC symbol SLC7A9
Ensembl transcript ID ENST00000590341
Genbank transcript ID NM_001126335
UniProt peptide P82251
alteration type single base exchange
alteration region CDS
DNA changes c.425T>C
cDNA.602T>C
g.5618T>C
AA changes V142A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 142
frameshift no
known variant Reference ID: rs12150889
databasehomozygous (G/G)heterozygousallele carriers
1000G23210691301
ExAC62382029126529
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.0420.001
1.3180.098
(flanking)0.0940.115
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 increased5614wt: 0.2914 / mu: 0.2915 (marginal change - not scored)wt: AGTATGTGTGTGCGCCCTTCTATGTGGGCTGCAAGCCTCCT
mu: AGTATGTGTGTGCGCCCTTCTATGCGGGCTGCAAGCCTCCT		 ttct|ATGT
Acc marginally increased5618wt: 0.8820 / mu: 0.8842 (marginal change - not scored)wt: TGTGTGTGCGCCCTTCTATGTGGGCTGCAAGCCTCCTCAAA
mu: TGTGTGTGCGCCCTTCTATGCGGGCTGCAAGCCTCCTCAAA		 atgt|GGGC
Donor increased5622wt: 0.43 / mu: 0.62wt: GTGGGCTGCAAGCCT
mu: GCGGGCTGCAAGCCT		 GGGC|tgca
distance from splice site 54
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      142SFSEYVCAPFYVGCKPPQIVVKCL
mutated  not conserved    142SFSEYVCAPFYAGCKPPQIVVKC
Ptroglodytes  not conserved  ENSPTRG00000010796  142SFSEYVCAPFYAGCKPPQIVVKC
Mmulatta  all identical  ENSMMUG00000028800  142SFSEYVCTPFYVGCKPPVIVVKC
Fcatus  not conserved  ENSFCAG00000014914  144SFSEYVCAPFYSGCNPPPVVVKC
Mmusculus  not conserved  ENSMUSG00000030492  142SFSEYVCAAFYSGCKPPAVVVKL
Ggallus  not conserved  ENSGALG00000021158  148SFAEYASAPFYPGCDPPPVVIKC
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000005894  148FYPGCTPPQVVTKC
Dmelanogaster  not conserved  FBgn0030574  196SFAQYAVEAFVTECDPPRGVVKM
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000018268  157SFAEYVSAAFYPGCDPPVVVVKC
protein features
start (aa)end (aa)featuredetails 
121148TOPO_DOMExtracellular (Potential).lost
149169TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
170178TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
179199TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
200210TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
211231TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
232251TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
252272TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
273296TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
297317TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
318348TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
349369TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
370374TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
375395TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
396409TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
410430TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
431434TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
435455TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
456487TOPO_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 1464 / 1464
position (AA) of stopcodon in wt / mu AA sequence 488 / 488
position of stopcodon in wt / mu cDNA 1641 / 1641
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 178 / 178
chromosome 19
strand -1
last intron/exon boundary 1577
theoretical NMD boundary in CDS 1349
length of CDS 1464
coding sequence (CDS) position 425
cDNA position
(for ins/del: last normal base / first normal base)		 602
gDNA position
(for ins/del: last normal base / first normal base)		 5618
chromosomal position
(for ins/del: last normal base / first normal base)		 33355055
original gDNA sequence snippet TGTGTGTGCGCCCTTCTATGTGGGCTGCAAGCCTCCTCAAA
altered gDNA sequence snippet TGTGTGTGCGCCCTTCTATGCGGGCTGCAAGCCTCCTCAAA
original cDNA sequence snippet TGTGTGTGCGCCCTTCTATGTGGGCTGCAAGCCTCCTCAAA
altered cDNA sequence snippet TGTGTGTGCGCCCTTCTATGCGGGCTGCAAGCCTCCTCAAA
wildtype AA sequence MGDTGLRKRR EDEKSIQSQE PKTTSLQKEL GLISGISIIV GTIIGSGIFV SPKSVLSNTE
AVGPCLIIWA ACGVLATLGA LCFAELGTMI TKSGGEYPYL MEAYGPIPAY LFSWASLIVI
KPTSFAIICL SFSEYVCAPF YVGCKPPQIV VKCLAAAAIL FISTVNSLSV RLGSYVQNIF
TAAKLVIVAI IIISGLVLLA QGNTKNFDNS FEGAQLSVGA ISLAFYNGLW AYDGWNQLNY
ITEELRNPYR NLPLAIIIGI PLVTACYILM NVSYFTVMTA TELLQSQAVA VTFGDRVLYP
ASWIVPLFVA FSTIGAANGT CFTAGRLIYV AGREGHMLKV LSYISVRRLT PAPAIIFYGI
IATIYIIPGD INSLVNYFSF AAWLFYGLTI LGLIVMRFTR KELERPIKVP VVIPVLMTLI
SVFLVLAPII SKPTWEYLYC VLFILSGLLF YFLFVHYKFG WAQKISKPIT MHLQMLMEVV
PPEEDPE*
mutated AA sequence MGDTGLRKRR EDEKSIQSQE PKTTSLQKEL GLISGISIIV GTIIGSGIFV SPKSVLSNTE
AVGPCLIIWA ACGVLATLGA LCFAELGTMI TKSGGEYPYL MEAYGPIPAY LFSWASLIVI
KPTSFAIICL SFSEYVCAPF YAGCKPPQIV VKCLAAAAIL FISTVNSLSV RLGSYVQNIF
TAAKLVIVAI IIISGLVLLA QGNTKNFDNS FEGAQLSVGA ISLAFYNGLW AYDGWNQLNY
ITEELRNPYR NLPLAIIIGI PLVTACYILM NVSYFTVMTA TELLQSQAVA VTFGDRVLYP
ASWIVPLFVA FSTIGAANGT CFTAGRLIYV AGREGHMLKV LSYISVRRLT PAPAIIFYGI
IATIYIIPGD INSLVNYFSF AAWLFYGLTI LGLIVMRFTR KELERPIKVP VVIPVLMTLI
SVFLVLAPII SKPTWEYLYC VLFILSGLLF YFLFVHYKFG WAQKISKPIT MHLQMLMEVV
PPEEDPE*
speed 1.00 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