mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 7.59811910070881e-10 (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)

chr10:47756662T>GN/A show variant in all transcripts IGV

HGNC symbol

ANXA8L2

Ensembl transcript ID

ENST00000449464

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.579T>G
g.9727T>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs202221168

database	homozygous (G/G)	heterozygous	allele carriers
1000G	-	-	-
ExAC	7811	2212	10023

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.936	0.991
	1.034	0.946
(flanking)	0.398	0.767

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

splice sites

splice site change occurs after stopcodon (at aa 163) splice site change occurs after stopcodon (at aa 164) splice site change occurs after stopcodon (at aa 165)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	9718	wt: 0.9787 / mu: 0.9854 (marginal change - not scored)	wt: GCGGCAGGCGAGAAT mu: GCGGCAGGCGAGAAG	GGCA\|ggcg
Donor increased	9721	wt: 0.39 / mu: 0.99	wt: GCAGGCGAGAATATT mu: GCAGGCGAGAAGATT	AGGC\|gaga
Donor increased	9723	wt: 0.48 / mu: 0.91	wt: AGGCGAGAATATTCG mu: AGGCGAGAAGATTCG	GCGA\|gaat
Donor gained	9726	0.87	mu: CGAGAAGATTCGTGG	AGAA\|gatt

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

84 / 84

chromosome

strand

last intron/exon boundary

1065

theoretical NMD boundary in CDS

931

length of CDS

426

coding sequence (CDS) position

N/A

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

579

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

9727

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

47756662

original gDNA sequence snippet

CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT

altered gDNA sequence snippet

CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT

original cDNA sequence snippet

CTGTATGCGGCAGGCGAGAATATTCGTGGGACTGATGAGAT

altered cDNA sequence snippet

CTGTATGCGGCAGGCGAGAAGATTCGTGGGACTGATGAGAT

wildtype AA sequence

MAWWKAWIEQ EGVTVKSSSH FNPDPDAETL YKAMKGIGTN EQAIIDVLTK RSNTQRQQIA
KSFKAQFGKD LTETLKSELS GKFERLIVAL MYPPYRYEAK ELHDAMKGLG TKEGVIIEIL
ASRTKNQLRE IMKAYEEGQQ G*

mutated AA sequence

N/A

speed

0.66 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