Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999883227316 (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 CM109047)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:10742170A>GN/A show variant in all transcripts   IGV
HGNC symbol SLC44A2
Ensembl transcript ID ENST00000407327
Genbank transcript ID NM_001145056
UniProt peptide Q8IWA5
alteration type single base exchange
alteration region CDS
DNA changes c.455A>G
cDNA.476A>G
g.29038A>G
AA changes Q152R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 152
frameshift no
known variant Reference ID: rs2288904
databasehomozygous (G/G)heterozygousallele carriers
1000G16927092401
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM109047)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.9390.604
1.6460.59
(flanking)-0.8990.375
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained290370.87mu: TGCTTCGAGATGGTG CTTC|gaga
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      152FKNNKGVAEVLQDGDCPAVLIPSK
mutated  all conserved    152FKNNKGVAEVLRDGDCPAVLIPS
Ptroglodytes  all conserved  ENSPTRG00000010479  154FKNNKGVAEVLRDGDCPAVLIPS
Mmulatta  no alignment  ENSMMUG00000003744  n/a
Fcatus  all conserved  ENSFCAG00000004885  154FQGNKGVAEVLRDGDCPAVLIPS
Mmusculus  all conserved  ENSMUSG00000057193  154FQNNKGVTEILRDGECPAVITPS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000037059  154VDMTKNAPQILSEGLCPSILFPS
Dmelanogaster  not conserved  FBgn0039637  152IRTKSDIQDAINQNQCARWYIKS
Celegans  all identical  F35C8.7  219VDKTTVTTFQALQNLVQRGKCVSYTVKS
Xtropicalis  all conserved  ENSXETG00000011650  153FNNFSKSPVEVLRDRDCPAMITPS
protein features
start (aa)end (aa)featuredetails 
55232TOPO_DOMExtracellular (Potential).lost
153153CONFLICTL -> F (in Ref. 3; CBJ93592).might get lost (downstream of altered splice site)
187187CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
200200CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
233253TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
254256TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
257277TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
278315TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
316336TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
337364TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
365385TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
386457TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
417417CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
458480TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
481504TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
505525TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
526563TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
531531CONFLICTA -> G (in Ref. 1; CAB75542).might get lost (downstream of altered splice site)
564584TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
585599TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
600620TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
621638TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
639659TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
660706TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
695695CONFLICTL -> P (in Ref. 7; AAH40556).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2115 / 2115
position (AA) of stopcodon in wt / mu AA sequence 705 / 705
position of stopcodon in wt / mu cDNA 2136 / 2136
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 22 / 22
chromosome 19
strand 1
last intron/exon boundary 2030
theoretical NMD boundary in CDS 1958
length of CDS 2115
coding sequence (CDS) position 455
cDNA position
(for ins/del: last normal base / first normal base)		 476
gDNA position
(for ins/del: last normal base / first normal base)		 29038
chromosomal position
(for ins/del: last normal base / first normal base)		 10742170
original gDNA sequence snippet GGGAGTGGCTGAGGTGCTTCAAGATGGTGACTGCCCTGCTG
altered gDNA sequence snippet GGGAGTGGCTGAGGTGCTTCGAGATGGTGACTGCCCTGCTG
original cDNA sequence snippet AGGAGTGGCTGAGGTGCTTCAAGATGGTGACTGCCCTGCTG
altered cDNA sequence snippet AGGAGTGGCTGAGGTGCTTCGAGATGGTGACTGCCCTGCTG
wildtype AA sequence MEDERKNGAY GTPQKYDPTF KGPIYNRGCT DIICCVFLLL AIVGYVAVGI IAWTHGDPRK
VIYPTDSRGE FCGQKGTKNE NKPYLFYFNI VKCASPLVLL EFQCPTPQIC VEKCPDRYLT
YLNARSSRDF EYYKQFCVPG FKNNKGVAEV LQDGDCPAVL IPSKPLARRC FPAIHAYKGV
LMVGNETTYE DGHGSRKNIT DLVEGAKKAN GVLEARQLAM RIFEDYTVSW YWIIIGLVIA
MAMSLLFIIL LRFLAGIMVW VMIIMVILVL GYGIFHCYME YSRLRGEAGS DVSLVDLGFQ
TDFRVYLHLR QTWLAFMIIL SILEVIIILL LIFLRKRILI AIALIKEASR AVGYVMCSLL
YPLVTFFLLC LCIAYWASTA VFLSTSNEAV YKIFDDSPCP FTAKTCNPET FPSSNESRQC
PNARCQFAFY GGESGYHRAL LGLQIFNAFM FFWLANFVLA LGQVTLAGAF ASYYWALRKP
DDLPAFPLFS AFGRALRYHT GSLAFGALIL AIVQIIRVIL EYLDQRLKAA ENKFAKCLMT
CLKCCFWCLE KFIKFLNRNA YIMIAIYGTN FCTSARNAFF LLMRNIIRVA VLDKVTDFLF
LLGKLLIVGS VGILAFFFFT HRIRIVQDTA PPLNYYWVPI LTVIVGSYLI AHGFFSVYGM
CVDTLFLCFL EDLERNDGSA ERPYFMSSTL KKLLNKTNKK AAES*
mutated AA sequence MEDERKNGAY GTPQKYDPTF KGPIYNRGCT DIICCVFLLL AIVGYVAVGI IAWTHGDPRK
VIYPTDSRGE FCGQKGTKNE NKPYLFYFNI VKCASPLVLL EFQCPTPQIC VEKCPDRYLT
YLNARSSRDF EYYKQFCVPG FKNNKGVAEV LRDGDCPAVL IPSKPLARRC FPAIHAYKGV
LMVGNETTYE DGHGSRKNIT DLVEGAKKAN GVLEARQLAM RIFEDYTVSW YWIIIGLVIA
MAMSLLFIIL LRFLAGIMVW VMIIMVILVL GYGIFHCYME YSRLRGEAGS DVSLVDLGFQ
TDFRVYLHLR QTWLAFMIIL SILEVIIILL LIFLRKRILI AIALIKEASR AVGYVMCSLL
YPLVTFFLLC LCIAYWASTA VFLSTSNEAV YKIFDDSPCP FTAKTCNPET FPSSNESRQC
PNARCQFAFY GGESGYHRAL LGLQIFNAFM FFWLANFVLA LGQVTLAGAF ASYYWALRKP
DDLPAFPLFS AFGRALRYHT GSLAFGALIL AIVQIIRVIL EYLDQRLKAA ENKFAKCLMT
CLKCCFWCLE KFIKFLNRNA YIMIAIYGTN FCTSARNAFF LLMRNIIRVA VLDKVTDFLF
LLGKLLIVGS VGILAFFFFT HRIRIVQDTA PPLNYYWVPI LTVIVGSYLI AHGFFSVYGM
CVDTLFLCFL EDLERNDGSA ERPYFMSSTL KKLLNKTNKK AAES*
speed 1.04 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