mutation t@sting

Prediction

polymorphism

Model: without_aae, prob: 0.999934818542658 (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)

chr14:33291494C>TN/A show variant in all transcripts IGV

HGNC symbol

AKAP6

Ensembl transcript ID

ENST00000557272

Genbank transcript ID

N/A

UniProt peptide

Q13023

alteration type

single base exchange

alteration region

intron

DNA changes

g.493016C>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs11845640

database	homozygous (T/T)	heterozygous	allele carriers
1000G	236	857	1093
ExAC	2121	14261	16382

regulatory features

N/A

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.647	0.051
	0.464	0.202
(flanking)	0.44	0.522

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
Donor increased	493020	wt: 0.87 / mu: 0.97	wt: GCGCATGTGGAGGAT mu: GTGCATGTGGAGGAT	GCAT\|gtgg
Donor marginally increased	493009	wt: 0.9898 / mu: 0.9943 (marginal change - not scored)	wt: AAAGCGAAAAAGCGC mu: AAAGCGAAAAAGTGC	AGCG\|aaaa

distance from splice site

7560

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

start (aa)	end (aa)	feature	details
1560	1701	COMPBIAS	Ser-rich.	might get lost (downstream of altered splice site)
2063	2076	REGION	PKA-RII subunit binding domain.	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

44 / 44

chromosome

strand

last intron/exon boundary

3632

theoretical NMD boundary in CDS

3538

length of CDS

3738

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)

493016

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

33291494

original gDNA sequence snippet

ACAGTCACAAAGCGAAAAAGCGCATGTGGAGGATCCCCTGC

altered gDNA sequence snippet

ACAGTCACAAAGCGAAAAAGTGCATGTGGAGGATCCCCTGC

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLTMSVTLSP LRSQDLDPMA TDASPMAINM TPTVEQGEGE EAMKDMDSDQ QYEKPPPLHT
GADWKIVLHL PEIETWLRMT SERVRDLTYS VQQDSDSKHV DVHLVQLKDI CEDISDHVEQ
IHALLETEFS LKLLSYSVNV IVDIHAVQLL WHQLRVSVLV LRERILQGLQ DANGNYTRQT
DILQAFSEET KEGRLDSLTE VDDSGQLTIK CSQNYLSLDC GITAFELSDY SPSEDLLSGL
GDMTSSQVKT KPFDSWSYSE MEKEFPELIR SVGLLTVAAD SISTNGSEAV TEEVSQVSLS
VDDKGGCEED NASAVEEQPG LTLGVSSSSG EALTNAAQPS SETVQQESSS SSHHDAKNQQ
PVPCENATPK RTIRDCFNYN EDSPTQPTLP KRGLFLKEET FKNDLKGNGG KRQMVDLKPE
MSRSTPSLVD PPDRSKLCLV LQSSYPNSPS AASQSYECLH KVGNGNLENT VKFHIKEISS
SLGRLNDCYK EKSRLKKPHK TSEEVPPCRT PKRGTGSGKQ AKNTKSSAVP NGELSYTSKA
IEGPQTNSAS TSSLEPCNQR SWNAKLQLQS ETSSSPAFTQ SSESSVGSDN IMSPVPLLSK
HKSKKGQASS PSHVTRNGEV VEAWYGSDEY LALPSHLKQT EVLALKLENL TKLLPQKPRG
ETIQNIDDWE LSEMNSDSEI YPTYHVKKKH TRLGRVSPSS SSDIASSLGE SIESGPLSDI
LSDEESSMPL AGMKKYADEK SERASSSEKN ESHSATKSAL IQKLMQDIQH QDNYEAIWEK
IEGFVNKLDE FIQWLNEAME TTENWTPPKA EMDDLKLYLE THLSFKLNVD SHCALKEAVE
EEGHQLLELI ASHKAGLKDM LRMIASQWKE LQRQIKRQHS WILRALDTIK AEILATDVSV
EDEEGTGSPK AEVQLCYLEA QRDAVEQMSL KLYSEQYTSS SKRKEEFADM SKVHSVGSNG
LLDFDSEYQE LWDWLIDMES LVMDSHDLMM SEEQQQHLYK RYSVEMSIRH LKKTELLSKV
EALKKGGVLL PNDLLEKVDS INEKWELLGK TLGEKIQDTM AGHSGSSPRD LLSPESGSLV
RQLEVRIKEL KGWLRDTELF IFNSCLRQEK EGTMNTEKQL QYFKSLCREI KQRRRGVASI
LRLCQHLLDD RETCNLNADH QPMQLIIVNL ERRWEAIVMQ AVQWQTRLQK KMGKESIRLA
ATQGWPHPPA LGWPLVPSRL SLPFITLTSP KMNLPSKCVF STQAL*

mutated AA sequence

N/A

speed

0.53 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