Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999997 (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) chr12:58025813G>CN/A show variant in all transcripts   IGV
HGNC symbol B4GALNT1
Ensembl transcript ID ENST00000341156
Genbank transcript ID NM_001478
UniProt peptide Q00973
alteration type single base exchange
alteration region CDS
DNA changes c.103C>G
cDNA.688C>G
g.1326C>G
AA changes L35V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 35
frameshift no
known variant Reference ID: rs774896
databasehomozygous (C/C)heterozygousallele carriers
1000G1878881075
ExAC47130943565
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4630.012
0.0350.003
(flanking)-0.1250.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc gained13250.45mu: CGGGACGCGCCCGGCCTCCGGGTACCTCTTGCGCCGTGGGC ccgg|GTAC
distance from splice site 104
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      35YASTRDAPGLRLPLAPWAPPQSPR
mutated  all conserved    35YASTRDAPGLRVPLAPWAPPQSP
Ptroglodytes  all conserved  ENSPTRG00000005143  35YASTRDAPGLRVPLAPWAPPQSP
Mmulatta  not conserved  ENSMMUG00000001182  35YASTRDAPGLRAPLAPWAPPQSP
Fcatus  no alignment  ENSFCAG00000002090  n/a
Mmusculus  not conserved  ENSMUSG00000006731  35YSSTRNAPSLPNPLALWSPPQGP
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000012842  35LALLHSWPTRVYTAVDVWQHQGH
Drerio  all conserved  ENSDARG00000077352  35LAVLHSWPTRVYSTVDVRYRPGPGAERL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000006222  34HIFTKPSSVVNV----WNREAPKDL
protein features
start (aa)end (aa)featuredetails 
26533TOPO_DOMLumenal (Potential).lost
7979CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
8080DISULFIDInterchain (with C-412).might get lost (downstream of altered splice site)
8080DISULFIDInterchain (with C-412).might get lost (downstream of altered splice site)
8282DISULFIDInterchain (with C-529).might get lost (downstream of altered splice site)
8282DISULFIDInterchain (with C-529).might get lost (downstream of altered splice site)
179179CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
274274CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
412412DISULFIDInterchain (with C-80).might get lost (downstream of altered splice site)
412412DISULFIDInterchain (with C-80).might get lost (downstream of altered splice site)
429429DISULFIDmight get lost (downstream of altered splice site)
476476DISULFIDmight get lost (downstream of altered splice site)
529529DISULFIDInterchain (with C-82).might get lost (downstream of altered splice site)
529529DISULFIDInterchain (with C-82).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1602 / 1602
position (AA) of stopcodon in wt / mu AA sequence 534 / 534
position of stopcodon in wt / mu cDNA 2187 / 2187
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 586 / 586
chromosome 12
strand -1
last intron/exon boundary 1970
theoretical NMD boundary in CDS 1334
length of CDS 1602
coding sequence (CDS) position 103
cDNA position
(for ins/del: last normal base / first normal base)		 688
gDNA position
(for ins/del: last normal base / first normal base)		 1326
chromosomal position
(for ins/del: last normal base / first normal base)		 58025813
original gDNA sequence snippet GGGACGCGCCCGGCCTCCGGCTACCTCTTGCGCCGTGGGCG
altered gDNA sequence snippet GGGACGCGCCCGGCCTCCGGGTACCTCTTGCGCCGTGGGCG
original cDNA sequence snippet GGGACGCGCCCGGCCTCCGGCTACCTCTTGCGCCGTGGGCG
altered cDNA sequence snippet GGGACGCGCCCGGCCTCCGGGTACCTCTTGCGCCGTGGGCG
wildtype AA sequence MWLGRRALCA LVLLLACASL GLLYASTRDA PGLRLPLAPW APPQSPRRPE LPDLAPEPRY
AHIPVRIKEQ VVGLLAWNNC SCESSGGGLP LPFQKQVRAI DLTKAFDPAE LRAASATREQ
EFQAFLSRSQ SPADQLLIAP ANSPLQYPLQ GVEVQPLRSI LVPGLSLQAA SGQEVYQVNL
TASLGTWDVA GEVTGVTLTG EGQADLTLVS PGLDQLNRQL QLVTYSSRSY QTNTADTVRF
STEGHEAAFT IRIRHPPNPR LYPPGSLPQG AQYNISALVT IATKTFLRYD RLRALITSIR
RFYPTVTVVI ADDSDKPERV SGPYVEHYLM PFGKGWFAGR NLAVSQVTTK YVLWVDDDFV
FTARTRLERL VDVLERTPLD LVGGAVREIS GFATTYRQLL SVEPGAPGLG NCLRQRRGFH
HELVGFPGCV VTDGVVNFFL ARTDKVREVG FDPRLSRVAH LEFFLDGLGS LRVGSCSDVV
VDHASKLKLP WTSRDAGAET YARYRYPGSL DESQMAKHRL LFFKHRLQCM TSQ*
mutated AA sequence MWLGRRALCA LVLLLACASL GLLYASTRDA PGLRVPLAPW APPQSPRRPE LPDLAPEPRY
AHIPVRIKEQ VVGLLAWNNC SCESSGGGLP LPFQKQVRAI DLTKAFDPAE LRAASATREQ
EFQAFLSRSQ SPADQLLIAP ANSPLQYPLQ GVEVQPLRSI LVPGLSLQAA SGQEVYQVNL
TASLGTWDVA GEVTGVTLTG EGQADLTLVS PGLDQLNRQL QLVTYSSRSY QTNTADTVRF
STEGHEAAFT IRIRHPPNPR LYPPGSLPQG AQYNISALVT IATKTFLRYD RLRALITSIR
RFYPTVTVVI ADDSDKPERV SGPYVEHYLM PFGKGWFAGR NLAVSQVTTK YVLWVDDDFV
FTARTRLERL VDVLERTPLD LVGGAVREIS GFATTYRQLL SVEPGAPGLG NCLRQRRGFH
HELVGFPGCV VTDGVVNFFL ARTDKVREVG FDPRLSRVAH LEFFLDGLGS LRVGSCSDVV
VDHASKLKLP WTSRDAGAET YARYRYPGSL DESQMAKHRL LFFKHRLQCM TSQ*
speed 1.19 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