mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999993586636597 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:29634003G>CN/A show variant in all transcripts IGV

HGNC symbol

MOG

Ensembl transcript ID

ENST00000376902

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.878G>C
g.9246G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2857766

database	homozygous (C/C)	heterozygous	allele carriers
1000G	96	712	808
ExAC	3244	19321	22565

regulatory features

DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-2.576	0
	-0.014	0.013
(flanking)	1.411	0.179

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

splice sites

splice site change occurs after stopcodon (at aa 213)

effect	gDNA position	score	detection sequence	exon-intron border
Acc marginally increased	9237	wt: 0.8208 / mu: 0.8540 (marginal change - not scored)	wt: TGCTGCCTGTGCTCCTCCTGCAGATCACTGTTGGCCTCATC mu: TGCTGCCTGTGCTCCTCCTGCAGATCACTCTTGGCCTCATC	ctgc\|AGAT
Donor increased	9238	wt: 0.25 / mu: 0.49	wt: CCTGCAGATCACTGT mu: CCTGCAGATCACTCT	TGCA\|gatc

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

230 / 230

chromosome

strand

last intron/exon boundary

1098

theoretical NMD boundary in CDS

818

length of CDS

516

coding sequence (CDS) position

N/A

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

878

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

9246

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

29634003

original gDNA sequence snippet

TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC

altered gDNA sequence snippet

TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC

original cDNA sequence snippet

TGCTCCTCCTGCAGATCACTGTTGGCCTCATCTTCCTCTGC

altered cDNA sequence snippet

TGCTCCTCCTGCAGATCACTCTTGGCCTCATCTTCCTCTGC

wildtype AA sequence

MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEVSHSV TQDWLQWHDH GSLQPPPPRL K*

mutated AA sequence

N/A

speed

0.68 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