mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.053247450817048 (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)

chr18:11886563C>GN/A show variant in all transcripts IGV

HGNC symbol

MPPE1

Ensembl transcript ID

ENST00000309976

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.22660G>C

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs662515

database	homozygous (G/G)	heterozygous	allele carriers
1000G	733	1051	1784
ExAC	8704	15359	24063

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.123	0.114
	2.183	0.15
(flanking)	-0.827	0.121

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	22665	wt: 0.8990 / mu: 0.9582 (marginal change - not scored)	wt: GCAGAGGAAAGGGAC mu: CCAGAGGAAAGGGAC	AGAG\|gaaa
Donor marginally increased	22662	wt: 0.7564 / mu: 0.8282 (marginal change - not scored)	wt: CCTGCAGAGGAAAGG mu: CCTCCAGAGGAAAGG	TGCA\|gagg
Donor marginally increased	22664	wt: 0.9978 / mu: 0.9986 (marginal change - not scored)	wt: TGCAGAGGAAAGGGA mu: TCCAGAGGAAAGGGA	CAGA\|ggaa

distance from splice site

353

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

N/A

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

N/A

position of start ATG in wt / mu cDNA

243 / 243

chromosome

strand

-1

last intron/exon boundary

1062

theoretical NMD boundary in CDS

769

length of CDS

1002

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)

22660

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

11886563

original gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTGCAGAGGAAAGGGACATCCCA

altered gDNA sequence snippet

CTGGGGAAGACGCTGCTCCTCCAGAGGAAAGGGACATCCCA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MAMIELGFGR QNFHPLKRKS SLLLKLIAVV FAVLLFCEFL IYYLAIFQCN WPEVKTTASD
GEQTTREPVL KAMFLADTHL LGEFLGHWLD KLRREWQMER AFQTALWLLQ PEVVFILGDI
FDEGKWSTPE AWADDVERFQ KMFRHPSHVQ LKVVAGNHDI GFHYEMNTYK VERFEKVFSS
ERLFSWKGIN FVMVNSVALN GDGCGICSET EAELIEVSHR LNCSRELLWW LQPRLVLSGH
THSACEVHHG GRVPELSVPS FSWRNRNNPS FIMGSITPTD YTLSKCYLPR EDVVLIIYCG
VVGFLVVLTL THFGLLASPF LSGLNLLGKR KTR*

mutated AA sequence

N/A

speed

0.93 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