Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999992831 (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 CM025961)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:220502367A>CN/A show variant in all transcripts   IGV
HGNC symbol SLC4A3
Ensembl transcript ID ENST00000317151
Genbank transcript ID N/A
UniProt peptide P48751
alteration type single base exchange
alteration region CDS
DNA changes c.2600A>C
cDNA.2718A>C
g.10319A>C
AA changes D867A Score: 126 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 867
frameshift no
known variant Reference ID: rs635311
databasehomozygous (C/C)heterozygousallele carriers
1000G117610412217
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM025961)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.9840.025
-0.5930
(flanking)-0.0470
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained103240.48mu: TGGAGGGGTCCCTGGCTGCTGGTCTGGAGCCAAATGGCAGT gctg|GTCT
Acc gained103280.54mu: GGGGTCCCTGGCTGCTGGTCTGGAGCCAAATGGCAGTGCCC gtct|GGAG
distance from splice site 65
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      867YPPEGALEGSLDAGLEPNGSALPP
mutated  not conserved    867YPPEGALEGSLAAGLEPNGSALP
Ptroglodytes  all identical  ENSPTRG00000012966  894YPPEGALEGSLDAGLEPN
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000006669  894YPPEGALE----AGLDLNGSALP
Mmusculus  not conserved  ENSMUSG00000006576  866YPPDEALE----TGLELNSSALP
Ggallus  not conserved  ENSGALG00000011224  889YPPN--VQGGL----
Trubripes  not conserved  ENSTRUG00000002078  843YPSDATTAN----GFHDDHLVF-
Drerio  not conserved  ENSDARG00000053678  815QRGSSVIGEPI-
Dmelanogaster  not conserved  FBgn0036043  890YNLPPPTLVAHEHATNESLLNATASVTTNITQMVMNISTT
Celegans  not conserved  R03E9.3  602Y--------------IE
Xtropicalis  not conserved  ENSXETG00000007160  625YPPVGAVVGRTAA-----
protein features
start (aa)end (aa)featuredetails 
7091232REGIONMembrane (anion exchange).lost
875875CONFLICTS -> C (in Ref. 2; AAB05850).might get lost (downstream of altered splice site)
885887CONFLICTSPR -> GPE (in Ref. 2; AAB05850).might get lost (downstream of altered splice site)
893910TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
899899CONFLICTL -> P (in Ref. 2; AAB05850).might get lost (downstream of altered splice site)
911925TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
926946TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
953953CONFLICTK -> N (in Ref. 4; BAF82663).might get lost (downstream of altered splice site)
955955MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
958958MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
961961MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
9801002TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
983983CONFLICTP -> L (in Ref. 7; AAI71760).might get lost (downstream of altered splice site)
10281049TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10521052CONFLICTR -> H (in Ref. 4; BAF82663).might get lost (downstream of altered splice site)
10541054CONFLICTV -> I (in Ref. 3; AAN34939).might get lost (downstream of altered splice site)
10831128TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
10961096CONFLICTI -> M (in Ref. 2; AAB05850).might get lost (downstream of altered splice site)
11551191TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
11651165LIPIDS-palmitoyl cysteine (By similarity).might get lost (downstream of altered splice site)
11841187COMPBIASPoly-Leu.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3699 / 3699
position (AA) of stopcodon in wt / mu AA sequence 1233 / 1233
position of stopcodon in wt / mu cDNA 3817 / 3817
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 119 / 119
chromosome 2
strand 1
last intron/exon boundary 3740
theoretical NMD boundary in CDS 3571
length of CDS 3699
coding sequence (CDS) position 2600
cDNA position
(for ins/del: last normal base / first normal base)		 2718
gDNA position
(for ins/del: last normal base / first normal base)		 10319
chromosomal position
(for ins/del: last normal base / first normal base)		 220502367
original gDNA sequence snippet GGCCCTGGAGGGGTCCCTGGATGCTGGTCTGGAGCCAAATG
altered gDNA sequence snippet GGCCCTGGAGGGGTCCCTGGCTGCTGGTCTGGAGCCAAATG
original cDNA sequence snippet GGCCCTGGAGGGGTCCCTGGATGCTGGTCTGGAGCCAAATG
altered cDNA sequence snippet GGCCCTGGAGGGGTCCCTGGCTGCTGGTCTGGAGCCAAATG
wildtype AA sequence MANGVIPPPG GASPLPQVRV PLEEPPLSPD VEEEDDDLGK TLAVSRFGDL ISKPPAWDPE
KPSRSYSERD FEFHRHTSHH THHPLSARLP PPHKLRRLPP TSARHTRRKR KKEKTSAPPS
EGTPPIQEEG GAGVDEEEEE EEEEEGESEA EPVEPPHSGT PQKAKFSIGS DEDDSPGLPG
RAAVTKPLPS VGPHTDKSPQ HSSSSPSPRA RASRLAGEKS RPWSPSASYD LRERLCPGSA
LGNPGGPEQQ VPTDEAEAQM LGSADLDDMK SHRLEDNPGV RRHLVKKPSR TQGGRGSPSG
LAPILRRKKK KKKLDRRPHE VFVELNELML DRSQEPHWRE TARWIKFEED VEEETERWGK
PHVASLSFRS LLELRRTIAH GAALLDLEQT TLPGIAHLVV ETMIVSDQIR PEDRASVLRT
LLLKHSHPND DKDSGFFPRN PSSSSMNSVL GNHHPTPSHG PDGAVPTMAD DLGEPAPLWP
HDPDAKEKPL HMPGGDGHRG KSLKLLEKIP EDAEATVVLV GCVPFLEQPA AAFVRLNEAV
LLESVLEVPV PVRFLFVMLG PSHTSTDYHE LGRSIATLMS DKLFHEAAYQ ADDRQDLLSA
ISEFLDGSIV IPPSEVEGRD LLRSVAAFQR ELLRKRRERE QTKVEMTTRG GYTAPGKELS
LELGGSEATP EDDPLLRTGS VFGGLVRDVR RRYPHYPSDL RDALHSQCVA AVLFIYFAAL
SPAITFGGLL GEKTEGLMGV SELIVSTAVL GVLFSLLGAQ PLLVVGFSGP LLVFEEAFFK
FCRAQDLEYL TGRVWVGLWL VVFVLALVAA EGSFLVRYIS PFTQEIFAFL ISLIFIYETF
YKLYKVFTEH PLLPFYPPEG ALEGSLDAGL EPNGSALPPT EGPPSPRNQP NTALLSLILM
LGTFFIAFFL RKFRNSRFLG GKARRIIGDF GIPISILVMV LVDYSITDTY TQKLTVPTGL
SVTSPDKRSW FIPPLGSARP FPPWMMVAAA VPALLVLILI FMETQITALI VSQKARRLLK
GSGFHLDLLL IGSLGGLCGL FGLPWLTAAT VRSVTHVNAL TVMRTAIAPG DKPQIQEVRE
QRVTGVLIAS LVGLSIVMGA VLRRIPLAVL FGIFLYMGVT SLSGIQLSQR LLLILMPAKH
HPEQPYVTKV KTWRMHLFTC IQLGCIALLW VVKSTAASLA FPFLLLLTVP LRHCLLPRLF
QDRELQALDS EDAEPNFDED GQDEYNELHM PV*
mutated AA sequence MANGVIPPPG GASPLPQVRV PLEEPPLSPD VEEEDDDLGK TLAVSRFGDL ISKPPAWDPE
KPSRSYSERD FEFHRHTSHH THHPLSARLP PPHKLRRLPP TSARHTRRKR KKEKTSAPPS
EGTPPIQEEG GAGVDEEEEE EEEEEGESEA EPVEPPHSGT PQKAKFSIGS DEDDSPGLPG
RAAVTKPLPS VGPHTDKSPQ HSSSSPSPRA RASRLAGEKS RPWSPSASYD LRERLCPGSA
LGNPGGPEQQ VPTDEAEAQM LGSADLDDMK SHRLEDNPGV RRHLVKKPSR TQGGRGSPSG
LAPILRRKKK KKKLDRRPHE VFVELNELML DRSQEPHWRE TARWIKFEED VEEETERWGK
PHVASLSFRS LLELRRTIAH GAALLDLEQT TLPGIAHLVV ETMIVSDQIR PEDRASVLRT
LLLKHSHPND DKDSGFFPRN PSSSSMNSVL GNHHPTPSHG PDGAVPTMAD DLGEPAPLWP
HDPDAKEKPL HMPGGDGHRG KSLKLLEKIP EDAEATVVLV GCVPFLEQPA AAFVRLNEAV
LLESVLEVPV PVRFLFVMLG PSHTSTDYHE LGRSIATLMS DKLFHEAAYQ ADDRQDLLSA
ISEFLDGSIV IPPSEVEGRD LLRSVAAFQR ELLRKRRERE QTKVEMTTRG GYTAPGKELS
LELGGSEATP EDDPLLRTGS VFGGLVRDVR RRYPHYPSDL RDALHSQCVA AVLFIYFAAL
SPAITFGGLL GEKTEGLMGV SELIVSTAVL GVLFSLLGAQ PLLVVGFSGP LLVFEEAFFK
FCRAQDLEYL TGRVWVGLWL VVFVLALVAA EGSFLVRYIS PFTQEIFAFL ISLIFIYETF
YKLYKVFTEH PLLPFYPPEG ALEGSLAAGL EPNGSALPPT EGPPSPRNQP NTALLSLILM
LGTFFIAFFL RKFRNSRFLG GKARRIIGDF GIPISILVMV LVDYSITDTY TQKLTVPTGL
SVTSPDKRSW FIPPLGSARP FPPWMMVAAA VPALLVLILI FMETQITALI VSQKARRLLK
GSGFHLDLLL IGSLGGLCGL FGLPWLTAAT VRSVTHVNAL TVMRTAIAPG DKPQIQEVRE
QRVTGVLIAS LVGLSIVMGA VLRRIPLAVL FGIFLYMGVT SLSGIQLSQR LLLILMPAKH
HPEQPYVTKV KTWRMHLFTC IQLGCIALLW VVKSTAASLA FPFLLLLTVP LRHCLLPRLF
QDRELQALDS EDAEPNFDED GQDEYNELHM PV*
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