mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 2.67564210733632e-10 (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)

chr18:34664093A>GN/A show variant in all transcripts IGV

HGNC symbol

KIAA1328

Ensembl transcript ID

ENST00000280020

Genbank transcript ID

NM_020776

UniProt peptide

Q86T90

alteration type

single base exchange

alteration region

intron

DNA changes

g.255025A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs323295

database	homozygous (G/G)	heterozygous	allele carriers
1000G	422	901	1323
ExAC	703	2749	3452

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.816	1
	0.2	0.998
(flanking)	1.524	0.999

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	255019	wt: 0.9548 / mu: 0.9632 (marginal change - not scored)	wt: TTTTTAAATTAATTTTTACAGGTTAAAAGCTCAGGCTCTGT mu: TTTTTAAATTAATTTTTACAGGTTAAGAGCTCAGGCTCTGT	acag\|GTTA
Acc increased	255017	wt: 0.32 / mu: 0.43	wt: ATTTTTTAAATTAATTTTTACAGGTTAAAAGCTCAGGCTCT mu: ATTTTTTAAATTAATTTTTACAGGTTAAGAGCTCAGGCTCT	ttac\|AGGT
Donor marginally increased	255019	wt: 0.9556 / mu: 0.9982 (marginal change - not scored)	wt: TTACAGGTTAAAAGC mu: TTACAGGTTAAGAGC	ACAG\|gtta

distance from splice site

16585

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
484	484	MOD_RES	Phosphoserine.	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

23 / 23

chromosome

strand

last intron/exon boundary

1546

theoretical NMD boundary in CDS

1473

length of CDS

1734

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)

255025

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

34664093

original gDNA sequence snippet

AATTAATTTTTACAGGTTAAAAGCTCAGGCTCTGTTTAAGT

altered gDNA sequence snippet

AATTAATTTTTACAGGTTAAGAGCTCAGGCTCTGTTTAAGT

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MADVAGPSRP SAAAFWSRDF SDEEQSVVYV PGISAEGNVR SRHKLMSPKA DVKLKTSRVT
DASISMESLK GTGDSVDEQN SCRGEIKSAS LKDLCLEDKR RIANLIKELA RVSEEKEVTE
ERLKAEQESF EKKIRQLEEQ NELIIKEREA LQLQYRECQE LLSLYQKYLS EQQEKLTMSL
SELGAARMQE QQVSSRKSTL QCSSVELDGS YLSIARPQTY YQTKQRPKSA VQDSASESLI
AFRNNSLKPV TLHHPKDDLD KIPSETTTCN CESPGRKPAV PTEKMPQEEL HMKECPHLKP
TPSQCCGHRL AADRVHDSHP TNMTPQHPKT HPESCSYCRL SWASLVHGGG ALQPIETLKK
QISEDRKQQL MLQKMELEIE KERLQHLLAQ QETKLLLKQQ QLHQSRLDYN CLLKSNCDGW
LLGTSSSIKK HQDPPNSGEN RKERKTVGFH SHMKDDAQWS CQKKDTCRPQ RGTVTGVRKD
ASTSPMPTGS LKDFVTTASP SLQHTTSRYE TSLLDLVQSL SPNSAPKPQR YPSREAGAWN
HGTFRLSPLK STRKKMGMHR TPEELEENQI LEDIFFI*

mutated AA sequence

N/A

speed

0.76 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