mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999999911492944 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr17:72308319G>AN/A show variant in all transcripts IGV

HGNC symbol

DNAI2

Ensembl transcript ID

ENST00000307504

Genbank transcript ID

N/A

UniProt peptide

Q9GZS0

alteration type

single base exchange

alteration region

intron

DNA changes

g.37934G>A

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs1979370

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1463	784	2247
ExAC	-	-	-

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.152	0
	-3.471	0
(flanking)	0.414	0

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 increased	37937	wt: 0.52 / mu: 0.70	wt: TCTTCGACATCATCTTCGCAGAGCTGAAGAAGAAGGAGGCA mu: TCTTCGACATCATCTTCACAGAGCTGAAGAAGAAGGAGGCA	gcag\|AGCT
Acc marginally increased	37935	wt: 0.5100 / mu: 0.5198 (marginal change - not scored)	wt: GTTCTTCGACATCATCTTCGCAGAGCTGAAGAAGAAGGAGG mu: GTTCTTCGACATCATCTTCACAGAGCTGAAGAAGAAGGAGG	tcgc\|AGAG
Donor marginally increased	37936	wt: 0.4358 / mu: 0.4444 (marginal change - not scored)	wt: TTCGCAGAGCTGAAG mu: TTCACAGAGCTGAAG	CGCA\|gagc
Donor marginally increased	37939	wt: 0.9132 / mu: 0.9753 (marginal change - not scored)	wt: GCAGAGCTGAAGAAG mu: ACAGAGCTGAAGAAG	AGAG\|ctga
Donor increased	37938	wt: 0.55 / mu: 0.60	wt: CGCAGAGCTGAAGAA mu: CACAGAGCTGAAGAA	CAGA\|gctg

distance from splice site

105

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
362	401	REPEAT	WD 4.	might get lost (downstream of altered splice site)
405	445	REPEAT	WD 5.	might get lost (downstream of altered splice site)
593	593	CONFLICT	G -> E (in Ref. 2; CAC17464).	might get lost (downstream of altered splice site)

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

409 / 409

chromosome

strand

last intron/exon boundary

1698

theoretical NMD boundary in CDS

1239

length of CDS

1209

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)

37934

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

72308319

original gDNA sequence snippet

AGTTCTTCGACATCATCTTCGCAGAGCTGAAGAAGAAGGAG

altered gDNA sequence snippet

AGTTCTTCGACATCATCTTCACAGAGCTGAAGAAGAAGGAG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MRTTLTPSCS SALDPQEIKR AATHLSWHPD GNRKLAVAYS CLDFQRAPVG MSSDSYIWDL
ENPNKPELAL KPSSPLVTLE FNPKDSHVLL GGCYNGQIAC WDTRKGSLVA ELSTIESSHR
DPVYGTIWLQ SKTGTECFSA STDGQVMWWD IRKMSEPTEV VILDITKKEQ LENALGAISL
EFESTLPTKF MVGTEQGIVI SCNRKAKTSA EKIVCTFPGH HGPIYALQRN PFYPKNFLTV
GDWTARIWSE DSRESSIMWT KYHMAYLTDA AWSPVRPTVF FTTRMDGTLD IWDFMFEQCD
PTLSLKVCDE ALFCLRVQDN GCLIACGSQL GTTTLLEVSP GLSTLQRNEK NVASSMFERE
TRREKILEAR HREMRLKEKA ATKSRRRPGG GGGRGSSGGR RG*

mutated AA sequence

N/A

speed

0.88 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