mutation t@sting

documentation

Prediction

disease causing

Model: without_aae, prob: 1 (explain)

Summary

known disease mutation at this position (HGMD CM023767)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr3:160803746T>GN/A show variant in all transcripts IGV

HGNC symbol

B3GALNT1

Ensembl transcript ID

ENST00000417187

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.19427A>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs28937582
Allele 'G' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM023767)

known disease mutation at this position, please check HGMD for details (HGMD ID CM023767)
known disease mutation at this position, please check HGMD for details (HGMD ID CM023767)

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.854	1
	4.98	1
(flanking)	6.028	1

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 marginally increased	19426	wt: 0.4524 / mu: 0.5442 (marginal change - not scored)	wt: AGTTTGAAGATGTTT mu: AGTTTGCAGATGTTT	TTTG\|aaga

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

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)

19427

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

160803746

original gDNA sequence snippet

CGTAAAACCCATCAAGTTTGAAGATGTTTATGTCGGGATCT

altered gDNA sequence snippet

CGTAAAACCCATCAAGTTTGCAGATGTTTATGTCGGGATCT

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

0.17 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