Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99999999999375 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:54002231A>CN/A show variant in all transcripts   IGV
HGNC symbol MLIP
Ensembl transcript ID ENST00000514921
Genbank transcript ID N/A
UniProt peptide Q5VWP3
alteration type single base exchange
alteration region CDS
DNA changes c.1331A>C
cDNA.1444A>C
g.207452A>C
AA changes E444A Score: 107 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 444
frameshift no
known variant Reference ID: rs2754779
databasehomozygous (C/C)heterozygousallele carriers
1000G3248791203
ExAC28719472234
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.1590.028
-0.2730.002
(flanking)-0.8830.002
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased207443wt: 0.85 / mu: 0.94wt: ACTTGACCAAAAAGA
mu: ACTTGACCAAAAAGC		 TTGA|ccaa
Donor marginally increased207445wt: 0.9134 / mu: 0.9168 (marginal change - not scored)wt: TTGACCAAAAAGAAA
mu: TTGACCAAAAAGCAA		 GACC|aaaa
distance from splice site 719
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      444PASSTLTLDQKEKQTPPTPKKSLS
mutated  not conserved    444PASSTLTLDQKAKQTPPTPKKSL
Ptroglodytes  no alignment  ENSPTRG00000018294  n/a
Mmulatta  no alignment  ENSMMUG00000012781  n/a
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000032355  n/a
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000089920  607KSSNEAYSNLKERSADNLTPDP
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2748 / 2748
position (AA) of stopcodon in wt / mu AA sequence 916 / 916
position of stopcodon in wt / mu cDNA 2861 / 2861
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 114 / 114
chromosome 6
strand 1
last intron/exon boundary 2799
theoretical NMD boundary in CDS 2635
length of CDS 2748
coding sequence (CDS) position 1331
cDNA position
(for ins/del: last normal base / first normal base)		 1444
gDNA position
(for ins/del: last normal base / first normal base)		 207452
chromosomal position
(for ins/del: last normal base / first normal base)		 54002231
original gDNA sequence snippet GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC
altered gDNA sequence snippet GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC
original cDNA sequence snippet GCTCACACTTGACCAAAAAGAAAAGCAGACCCCACCCACGC
altered cDNA sequence snippet GCTCACACTTGACCAAAAAGCAAAGCAGACCCCACCCACGC
wildtype AA sequence MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ
GTDLKTSSHP EMLHGMAPQQ KHGQLTSSPT TSEQLACKPP AFSFVSPTNP NTPPDPVNLE
GASVLEEFHT RRLDVGGAVV EESATYFQTT AHSTPFSASK GTSSTLLFPH STQLSGSNLP
SSTAADPKPG LTSEVLKKTT LTSHVLSHGE SPRTSSSPPS SSASLKSNSA SYIPVRIVTH
SLSPSPKPFT SSFHGSSSTI CSQMSSSGNL SKSGVKSPVP SRLALLTAIL KSNPSHQRPF
SPASCPTFSL NSPASSTLTL DQKEKQTPPT PKKSLSSCSL RAGSPDQGEL QVSELTQQSF
HLPVFTKSTP LSQAPSLSPT KQASSSLASM NVERTPSPTL KSNTMLSLLQ TSTSSSVGLP
PVPPSSSLSS LKSKQDGDLR GPENPRNIHT YPSTLASSAL SSLSPPINQR ATFSSSEKCF
HPSPALSSLI NRSKRASSQL SGQELNPSAL PSLPVSSADF ASLPNLRSSS LPHANLPTLV
PQLSPSALHP HCGSGTLPSR LGKSESTTPN HRSPVSTPSL PISLTRTEEL ISPCALSMST
GPENKKSKQY KTKSSYKAFA AIPTNTLLLE QKALDEPAKT ESVSKDNTLE PPVELYFPAQ
LRQQTEELCA TIDKVLQDSL SMHSSDSPSR SPKTLLGSDT VKTPTTLPRA AGRETKYANL
SSPSSTVSES QLTKPGVIRP VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQAAHSV
DSYCNGSDTS GPWLL*
mutated AA sequence MELEKREKRS LLNKNLEEKL TVSAGGSEAK PLIFTFVPTV RRLPTHTQLA DTSKFLVKIP
EESSDKSPET VNRSKSNDYL TLNAGSQQER DQAKLTCPSE VSGTILQERE FEANKLQGMQ
QSDLFKAEYV LIVDSEGEDE AASRKVEQGP PGGIGTAAVR PKSLAISSSL VSDVVRPKTQ
GTDLKTSSHP EMLHGMAPQQ KHGQLTSSPT TSEQLACKPP AFSFVSPTNP NTPPDPVNLE
GASVLEEFHT RRLDVGGAVV EESATYFQTT AHSTPFSASK GTSSTLLFPH STQLSGSNLP
SSTAADPKPG LTSEVLKKTT LTSHVLSHGE SPRTSSSPPS SSASLKSNSA SYIPVRIVTH
SLSPSPKPFT SSFHGSSSTI CSQMSSSGNL SKSGVKSPVP SRLALLTAIL KSNPSHQRPF
SPASCPTFSL NSPASSTLTL DQKAKQTPPT PKKSLSSCSL RAGSPDQGEL QVSELTQQSF
HLPVFTKSTP LSQAPSLSPT KQASSSLASM NVERTPSPTL KSNTMLSLLQ TSTSSSVGLP
PVPPSSSLSS LKSKQDGDLR GPENPRNIHT YPSTLASSAL SSLSPPINQR ATFSSSEKCF
HPSPALSSLI NRSKRASSQL SGQELNPSAL PSLPVSSADF ASLPNLRSSS LPHANLPTLV
PQLSPSALHP HCGSGTLPSR LGKSESTTPN HRSPVSTPSL PISLTRTEEL ISPCALSMST
GPENKKSKQY KTKSSYKAFA AIPTNTLLLE QKALDEPAKT ESVSKDNTLE PPVELYFPAQ
LRQQTEELCA TIDKVLQDSL SMHSSDSPSR SPKTLLGSDT VKTPTTLPRA AGRETKYANL
SSPSSTVSES QLTKPGVIRP VPVKSRILLK KEEEVYEPNP FSKYLEDNSD LFSEQAAHSV
DSYCNGSDTS GPWLL*
speed 0.85 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