mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (explain)

Summary

known disease mutation at this position (HGMD CM023768)
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:160803732C>TN/A show variant in all transcripts IGV

HGNC symbol

B3GALNT1

Ensembl transcript ID

ENST00000417187

Genbank transcript ID

N/A

UniProt peptide

O75752

alteration type

single base exchange

alteration region

intron

DNA changes

g.19441G>A

AA changes

N/A

position(s) of altered AA
if AA alteration in CDS

N/A

frameshift

N/A

known variant

Reference ID: rs104893683

database	homozygous (T/T)	heterozygous	allele carriers
1000G	-	-	-
ExAC	0	3	3

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023768)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	6.028	1
	6.028	1
(flanking)	-0.355	0.921

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Donor gained	19437	0.94	mu: GTTTATGTCAGGATC	TTAT\|gtca

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
44	331	TOPO_DOM	Lumenal (Potential).	might get lost (downstream of altered splice site)
72	72	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
140	140	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
152	152	MOD_RES	Phosphotyrosine.	might get lost (downstream of altered splice site)
154	154	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
198	198	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
212	212	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)
326	326	CARBOHYD	N-linked (GlcNAc...) (Potential).	might get lost (downstream of altered splice site)

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

position (AA) of stopcodon in wt / mu AA sequence

N/A

position of stopcodon in wt / mu cDNA

N/A

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

64 / 64

chromosome

strand

-1

last intron/exon boundary

225

theoretical NMD boundary in CDS

111

length of CDS

276

coding sequence (CDS) position

N/A

cDNA position
(for ins/del: last normal base / first normal base)

N/A

gDNA position
(for ins/del: last normal base / first normal base)

19441

chromosomal position
(for ins/del: last normal base / first normal base)

160803732

original gDNA sequence snippet

AGTTTGAAGATGTTTATGTCGGGATCTGTTTGAATTTATTA

altered gDNA sequence snippet

AGTTTGAAGATGTTTATGTCAGGATCTGTTTGAATTTATTA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MASALWTVLP SRMSLRSLKW SLLLLSLLSF FVMWYLSLPH YNVIERVNWM YFYEIHLDVC
QLRRVIAAHG FSSKEIITFW QVMLRNTTCH Y*

mutated AA sequence

N/A

speed

0.37 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