mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999993155273678 (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)

chr22:50582626A>GN/A show variant in all transcripts IGV

HGNC symbol

MOV10L1

Ensembl transcript ID

ENST00000395843

Genbank transcript ID

N/A

UniProt peptide

Q9BXT6

alteration type

single base exchange

alteration region

5'UTR

DNA changes

cDNA.2461A>G
g.54319A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs2272837

database	homozygous (G/G)	heterozygous	allele carriers
1000G	361	968	1329
ExAC	6239	20289	26528

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
CTCF, Transcription Factor, CCCTC-binding factor

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.645	0
	0.017	0
(flanking)	-0.33	0

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

splice sites

splice site change before start ATG (at aa -84) |

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	54313	wt: 0.27 / mu: 0.93	wt: CAAGGTGCTACAGCC mu: CAAGGTGCTACGGCC	AGGT\|gcta

distance from splice site

Kozak consensus sequence altered?

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
770	777	NP_BIND	ATP (Potential).	might get lost (downstream of altered splice site)
886	889	MOTIF	DEAG box.	might get lost (downstream of altered splice site)
1063	1063	CONFLICT	I -> V (in Ref. 2; BAA90895).	might get lost (downstream of altered splice site)
1096	1096	CONFLICT	F -> L (in Ref. 2; BAA90895).	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

2709 / 2709

chromosome

strand

last intron/exon boundary

2904

theoretical NMD boundary in CDS

145

length of CDS

378

coding sequence (CDS) position

N/A

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

2461

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

54319

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

50582626

original gDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered gDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

original cDNA sequence snippet

GCACGAGAGCAAGGTGCTACAGCCGGCCACCATGGTCCGGG

altered cDNA sequence snippet

GCACGAGAGCAAGGTGCTACGGCCGGCCACCATGGTCCGGG

wildtype AA sequence

MSDISGQVTK LVKNYRSHEA LLMLPSRLFY HRELEVCADP TVVTSLLGWE KLPKKGFPLI
FHGVRGSEAR EGKSPSWFNP AEAVQVLRYC CLLAHSISSQ VSASDIGVIT PYRKQVRPAQ
ARLVL*

mutated AA sequence

N/A

speed

0.73 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