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
protein features (might be) affected
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

ENST00000416766

Genbank transcript ID

N/A

UniProt peptide

Q16653

alteration type

single base exchange

alteration region

intron

DNA changes

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

effect	gDNA position	score	wt 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

1417

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
30	154	TOPO_DOM	Extracellular (Potential).	might get lost (downstream of altered splice site)
155	175	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
176	210	TOPO_DOM	Cytoplasmic (Potential).	might get lost (downstream of altered splice site)
211	231	TRANSMEM	Helical; (Potential).	might get lost (downstream of altered splice site)
232	247	TOPO_DOM	Extracellular (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

1 / 1

chromosome

strand

last intron/exon boundary

617

theoretical NMD boundary in CDS

566

length of CDS

630

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)

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

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MASLSRPSLP SCLCSFLLLL LLQVSSSYAG QFRVIGPRHP IRALVGDEVE LPCRISPGKN
ATGMEVGWYR PPFSRVVHLY RNGKDQDGDQ APEYRGRTEL LKDAIGEGKV TLRIRNVRFS
DEGGFTCFFR DHSYQEEAAM ELKVEGKLRA EIENLHRTFD PHFLRVPCWK ITLFVIVPVL
GPLVALIICY NWLHRRLAGQ FLEELRNPF*

mutated AA sequence

N/A

speed

0.55 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