mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 1.15659617231668e-25 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM051556)
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:33951693C>GN/A show variant in all transcripts IGV

HGNC symbol

SLC45A2

Ensembl transcript ID

ENST00000509381

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.857G>C
g.33143G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs16891982

database	homozygous (G/G)	heterozygous	allele carriers
1000G	549	279	828
ExAC	-	-	-

known disease mutation at this position, please check HGMD for details (HGMD ID CM051556)

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	5.265	1
	2.151	1
(flanking)	5.265	1

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

splice sites

splice site change occurs after stopcodon (at aa 268)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	33146	wt: 0.4623 / mu: 0.5224 (marginal change - not scored)	wt: TTGTGCATCAACTCC mu: TTCTGCATCAACTCC	GTGC\|atca
Acc gained	33150	0.49	mu: GATGTTGGGGCTTCTGCATCAACTCCGTGTTTTCCTCACTT	atca\|ACTC

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

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

62 / 62

chromosome

strand

-1

last intron/exon boundary

768

theoretical NMD boundary in CDS

656

length of CDS

732

coding sequence (CDS) position

N/A

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

857

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

33143

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

33951693

original gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered gDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

original cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTGTGCATCAACTCCGTGTTTTC

altered cDNA sequence snippet

GAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTTTC

wildtype AA sequence

MGSNSGQAGR HIYKSLADDG PFDSVEPPKR PTSRLIMHSM AMFGREFCYA VEAAYVTPVL
LSVGLPSSLY SIVWFLSPIL GFLLQPVVGS ASDHCRSRWG RRRPYILTLG VMMLVGMALY
LNGATVVAAL IANPRRKLVW AISVTMIGVV LFDFAADFID GPIKAYLFDV CSHQDKEKGL
HYHALFTDSQ GNDIKVTAES TGEHASSLPL PLHQPPHWMD SLPVQHAVLH RFHGPDCVPR
GSL*

mutated AA sequence

N/A

speed

1.29 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