mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.99999713900237 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr12:68720627G>AN/A show variant in all transcripts IGV

HGNC symbol

MDM1

Ensembl transcript ID

ENST00000393543

Genbank transcript ID

NM_001205029

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.876C>T
g.5535C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs962976

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1188	1005	2193
ExAC	29833	-26899	2934

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.011	0.018
	0.015	0.012
(flanking)	1.819	0.014

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	5538	wt: 0.9756 / mu: 0.9808 (marginal change - not scored)	wt: TACTCAAGAAAGAGT mu: TATTCAAGAAAGAGT	CTCA\|agaa

distance from splice site

664

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

80 / 80

chromosome

strand

-1

last intron/exon boundary

213

theoretical NMD boundary in CDS

length of CDS

210

coding sequence (CDS) position

N/A

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

876

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

5535

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

68720627

original gDNA sequence snippet

AGCAGAACAAAAGGATGTTACTCAAGAAAGAGTTCACTCAC

altered gDNA sequence snippet

AGCAGAACAAAAGGATGTTATTCAAGAAAGAGTTCACTCAC

original cDNA sequence snippet

AGCAGAACAAAAGGATGTTACTCAAGAAAGAGTTCACTCAC

altered cDNA sequence snippet

AGCAGAACAAAAGGATGTTATTCAAGAAAGAGTTCACTCAC

wildtype AA sequence

MPVRFKGLSE YQRNFLWKKS YLSESCNSSV GRKYPWAGLR SDQLGNQGRC RTKIQHSDIS
SLLILVCST*

mutated AA sequence

N/A

speed

1.33 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