mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999998838797468 (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)

chr6:30314567C>AN/A show variant in all transcripts IGV

HGNC symbol

RPP21

Ensembl transcript ID

ENST00000436442

Genbank transcript ID

NM_001199121

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.455C>A
g.1660C>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs974963

database	homozygous (A/A)	heterozygous	allele carriers
1000G	363	1140	1503
ExAC	5759	21249	27008

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.011	0
	0.92	0.001
(flanking)	-0.968	0

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

splice sites

splice site change occurs after stopcodon (at aa 149)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	1655	wt: 0.34 / mu: 0.42	wt: AATGCAGACTCAGGG mu: AATGCAGACTAAGGG	TGCA\|gact
Donor marginally increased	1657	wt: 0.5616 / mu: 0.6297 (marginal change - not scored)	wt: TGCAGACTCAGGGTT mu: TGCAGACTAAGGGTT	CAGA\|ctca
Donor gained	1656	0.95	mu: ATGCAGACTAAGGGT	GCAG\|acta

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

4 / 4

chromosome

strand

last intron/exon boundary

378

theoretical NMD boundary in CDS

324

length of CDS

435

coding sequence (CDS) position

N/A

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

455

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

1660

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

30314567

original gDNA sequence snippet

CTGAGGAGAAAATGCAGACTCAGGGTTCCAGTAACCAGTGA

altered gDNA sequence snippet

CTGAGGAGAAAATGCAGACTAAGGGTTCCAGTAACCAGTGA

original cDNA sequence snippet

CTGAGGAGAAAATGCAGACTCAGGGTTCCAGTAACCAGTGA

altered cDNA sequence snippet

CTGAGGAGAAAATGCAGACTAAGGGTTCCAGTAACCAGTGA

wildtype AA sequence

MAGPVKDREA FQRLNFLYQA AHCVLAQDPE NQALARFYCY TERTIAKRLV LRRDPSVKRT
LCRGCSSLLV PGLTCTQRQR RCRGQRWTVQ TCLTCQRSQR FLNDPGHLLW GDRPEAQLGS
QAGERFQTTT TLAKHSPLHF RPPS*

mutated AA sequence

N/A

speed

0.43 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