mutation t@sting

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996949 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr9:112900199T>CN/A show variant in all transcripts IGV

HGNC symbol

AKAP2

Ensembl transcript ID

ENST00000555236

Genbank transcript ID

N/A

UniProt peptide

Q9Y2D5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2375T>C
cDNA.2375T>C
g.357431T>C

AA changes

L792S Score: 145 explain score(s)

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

792

frameshift

known variant

Reference ID: rs914358

database	homozygous (C/C)	heterozygous	allele carriers
1000G	547	1188	1735
ExAC	13520	5727	19247

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.667	0.001
	1.161	0.002
(flanking)	-2.513	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 marginally increased	357432	wt: 0.7363 / mu: 0.7626 (marginal change - not scored)	wt: ACGCTGGGGGACTCTCCGTTGGTTGATGACCCCTTGGAGTA mu: ACGCTGGGGGACTCTCCGTCGGTTGATGACCCCTTGGAGTA	gttg\|GTTG
Donor increased	357433	wt: 0.24 / mu: 0.27	wt: CGTTGGTTGATGACC mu: CGTCGGTTGATGACC	TTGG\|ttga

distance from splice site

621

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

792

mutated

not conserved

792

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000002361

780

Fcatus

no alignment

ENSFCAG00000004456

n/a

Mmusculus

not conserved

ENSMUSG00000038729

622

Ggallus

all conserved

ENSGALG00000015656

553

Trubripes

no alignment

ENSTRUG00000006899

n/a

Drerio

all identical

ENSDARG00000069608

969

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000002238

576

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3312 / 3312

position (AA) of stopcodon in wt / mu AA sequence

1104 / 1104

position of stopcodon in wt / mu cDNA

3312 / 3312

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

1 / 1

chromosome

strand

last intron/exon boundary

3214

theoretical NMD boundary in CDS

3163

length of CDS

3312

coding sequence (CDS) position

2375

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

2375

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

357431

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

112900199

original gDNA sequence snippet

CACGCTGGGGGACTCTCCGTTGGTTGATGACCCCTTGGAGT

altered gDNA sequence snippet

CACGCTGGGGGACTCTCCGTCGGTTGATGACCCCTTGGAGT

original cDNA sequence snippet

CACGCTGGGGGACTCTCCGTTGGTTGATGACCCCTTGGAGT

altered cDNA sequence snippet

CACGCTGGGGGACTCTCCGTCGGTTGATGACCCCTTGGAGT

wildtype AA sequence

MAEAELHKER LQAIAEKRKR QTEIEGKRQQ LDEQILLLQH SKSKVLREKW LLQGIPAGTA
EEEEARRRQS EEDEFRVKQL EDNIQRLEQE IQTLESEESQ ISAKEQIILE KLKETEKSFK
DFQKGFSSTD GDAVNYISSQ LPDLPILCSR TAEPSPGQDG TSRAAGVGWE NVLLKEGESA
SNATETSGPD MTIKKPPQLS EDDIWLKSEG DNYSATLLEP AASSLSPDHK NMEIEVSVAE
CKSVPGITST PHPMDHPSAF YSPPHNGLLT DHHESLDNDV AREIRYLDEV LEANCCDSAV
DGTYNGTSSP EPGAVVLVGG LSPPVHEATQ PEPTERTASR QAPPHIELSN SSPDPMAEAE
RTNGHSPSQP RDALGDSLQV PVSPSSTTSS RCSSRDGEFT LTTLKKEAKF ELRAFHEDKK
PSKLFEDDEH EKEQYCIRKV RPSEEMLELE KERRELIRSQ AVKKNPGIAA KWWNPPQEKT
IEEQLDEEHL ESHKKYKERK ERRAQQEQLL LQKQLQQQQQ QPPSQLCTAP ASSHERASMI
DKAKEDIVTE QIDFSAARKQ FQLMENSRQA VAKGQSTPRL FSIKPFYRPL GSVNSDKPLT
NPRPPSVGGP PEDSGASAAK GQKSPGALET PSAAGSQGNT ASQGKEGPYS EPSKRGPLSK
LWAEDGEFTS ARAVLTVVKD DDHGILDQFS RSVNVSLTQE ELDSGLDELS VRSQDTTVLE
TLSNDFSMDN ISDSGASNET TNALQENSLA DFSLPQTPQT DNPSEGRGEG VSKSFSDHGF
YSPSSTLGDS PLVDDPLEYQ AGLLVQNAIQ QAIAEQVDKA VSKTSRDGAE QQGPEATVEE
AEAAAFGSEK PQSMFEPPQV SSPVQEKRDV LPKILPAEDR ALRERGPPQP LPAVQPSGPI
NMEETRPEGS YFSKYSEAAE LRSTASLLAT QESDVMVGPF KLRSRKQRTL SMIEEEIRAA
QEREEELKRQ RQVLQSTQSP RTKNAPSLPS RTCYKTAPGK IEKVKPPPSP TTEGPSLQPD
LAPEEAAGTQ RPKNLMQTLM EDYETHKSKR RERMDDSSYT SKLLSCKVTS EVLEATRVNR
RKSALALRWE AGIYANQEEE DNE*

mutated AA sequence

MAEAELHKER LQAIAEKRKR QTEIEGKRQQ LDEQILLLQH SKSKVLREKW LLQGIPAGTA
EEEEARRRQS EEDEFRVKQL EDNIQRLEQE IQTLESEESQ ISAKEQIILE KLKETEKSFK
DFQKGFSSTD GDAVNYISSQ LPDLPILCSR TAEPSPGQDG TSRAAGVGWE NVLLKEGESA
SNATETSGPD MTIKKPPQLS EDDIWLKSEG DNYSATLLEP AASSLSPDHK NMEIEVSVAE
CKSVPGITST PHPMDHPSAF YSPPHNGLLT DHHESLDNDV AREIRYLDEV LEANCCDSAV
DGTYNGTSSP EPGAVVLVGG LSPPVHEATQ PEPTERTASR QAPPHIELSN SSPDPMAEAE
RTNGHSPSQP RDALGDSLQV PVSPSSTTSS RCSSRDGEFT LTTLKKEAKF ELRAFHEDKK
PSKLFEDDEH EKEQYCIRKV RPSEEMLELE KERRELIRSQ AVKKNPGIAA KWWNPPQEKT
IEEQLDEEHL ESHKKYKERK ERRAQQEQLL LQKQLQQQQQ QPPSQLCTAP ASSHERASMI
DKAKEDIVTE QIDFSAARKQ FQLMENSRQA VAKGQSTPRL FSIKPFYRPL GSVNSDKPLT
NPRPPSVGGP PEDSGASAAK GQKSPGALET PSAAGSQGNT ASQGKEGPYS EPSKRGPLSK
LWAEDGEFTS ARAVLTVVKD DDHGILDQFS RSVNVSLTQE ELDSGLDELS VRSQDTTVLE
TLSNDFSMDN ISDSGASNET TNALQENSLA DFSLPQTPQT DNPSEGRGEG VSKSFSDHGF
YSPSSTLGDS PSVDDPLEYQ AGLLVQNAIQ QAIAEQVDKA VSKTSRDGAE QQGPEATVEE
AEAAAFGSEK PQSMFEPPQV SSPVQEKRDV LPKILPAEDR ALRERGPPQP LPAVQPSGPI
NMEETRPEGS YFSKYSEAAE LRSTASLLAT QESDVMVGPF KLRSRKQRTL SMIEEEIRAA
QEREEELKRQ RQVLQSTQSP RTKNAPSLPS RTCYKTAPGK IEKVKPPPSP TTEGPSLQPD
LAPEEAAGTQ RPKNLMQTLM EDYETHKSKR RERMDDSSYT SKLLSCKVTS EVLEATRVNR
RKSALALRWE AGIYANQEEE DNE*

speed

1.03 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