mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.00353079658407157 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
known disease mutation at this position (HGMD CM062777)

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr6:656143C>AN/A show variant in all transcripts IGV

HGNC symbol

EXOC2

Ensembl transcript ID

ENST00000448181

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.36975G>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1211554

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1472	762	2234
ExAC	-	-	-

known disease mutation at this position, please check HGMD for details (HGMD ID CM062777)

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.745	0.775
	0.264	0.774
(flanking)	0.073	0.784

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
Acc marginally increased	36971	wt: 0.9678 / mu: 0.9719 (marginal change - not scored)	wt: CTTCAGCTTGTTTTGGTTCAAGAAGATGTCTCTCTTCAGTA mu: CTTCAGCTTGTTTTGGTTCAAGAATATGTCTCTCTTCAGTA	tcaa\|GAAG
Acc marginally increased	36965	wt: 0.9703 / mu: 0.9732 (marginal change - not scored)	wt: ACTCTTCTTCAGCTTGTTTTGGTTCAAGAAGATGTCTCTCT mu: ACTCTTCTTCAGCTTGTTTTGGTTCAAGAATATGTCTCTCT	tttg\|GTTC
Acc marginally increased	36966	wt: 0.7158 / mu: 0.7523 (marginal change - not scored)	wt: CTCTTCTTCAGCTTGTTTTGGTTCAAGAAGATGTCTCTCTT mu: CTCTTCTTCAGCTTGTTTTGGTTCAAGAATATGTCTCTCTT	ttgg\|TTCA

distance from splice site

36876

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

123 / 123

chromosome

strand

-1

last intron/exon boundary

1589

theoretical NMD boundary in CDS

1416

length of CDS

1560

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)

36975

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

656143

original gDNA sequence snippet

AGCTTGTTTTGGTTCAAGAAGATGTCTCTCTTCAGTATTTC

altered gDNA sequence snippet

AGCTTGTTTTGGTTCAAGAATATGTCTCTCTTCAGTATTTC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLDLDNDTRP SVLGHLSQTA SLKRGSSFQS GRDDTWRYKT PHRVAFVEKL TKLVLSQLPN
FWKLWISYVN GSLFSETAEK SGQIERSKNV RQRQNDFKKM IQEVMHSLVK LTRGALLPLS
IRDGEAKQYG GWEVKCELSG QWLAHAIQTV RLTHESLTAL EIPNDLLQTI QDLILDLRVR
CVMATLQHTA EEIKRLAEKE DWIVDNEGLT SLPCQFEQCI VCSLQSLKGV LECKPGEASV
FQQPKTQEEV CQLSINIMQV FIYCLEQLST KPDADIDTTH LSVDVSSPDL FGSIHEDFSL
TSEQRLLIVL SNCCYLERHT FLNIAEHFEK HNFQGIEKIT QVSMASLKEL DQRLFENYIE
LKADPIVGSL EPGIYAGYFD WKDCLPPTGV RNYLKEALVN IIAVHAEVFT ISKELVPRVL
SKVIEAVSEE LSRLMQCVSS FSKNGALQAR LEICALRDTV AVYLTPESKS SFKQALEALP
QLSSGADKKL LEELLNKFKS SMHLQLTCFQ AASSTMMKT*

mutated AA sequence

N/A

speed

0.86 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