MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 7 transcript(s)...
Querying Taster for transcript #1: ENST00000374530
Querying Taster for transcript #2: ENST00000302798
Querying Taster for transcript #3: ENST00000434623
Querying Taster for transcript #4: ENST00000374525
Querying Taster for transcript #5: ENST00000259318
Querying Taster for transcript #6: ENST00000555236
Querying Taster for transcript #7: ENST00000510514
MT speed 0 s - this script 7.200381 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PALM2AKAP2	polymorphism_automatic	3.05100389397239e-12	simple_aae		affected		L792S	single base exchange	rs914358		show file
PALM2AKAP2	polymorphism_automatic	3.05100389397239e-12	simple_aae		affected		L792S	single base exchange	rs914358		show file
AKAP2	polymorphism_automatic	3.05100389397239e-12	simple_aae		affected		L650S	single base exchange	rs914358		show file
AKAP2	polymorphism_automatic	3.05100389397239e-12	simple_aae		affected		L650S	single base exchange	rs914358		show file
AKAP2	polymorphism_automatic	3.05100389397239e-12	simple_aae		affected		L792S	single base exchange	rs914358		show file
AKAP2	polymorphism_automatic	3.05100389397239e-12	simple_aae		affected		L561S	single base exchange	rs914358		show file
AKAP2	polymorphism_automatic	3.05100389397239e-12	simple_aae		affected		L792S	single base exchange	rs914358		show file

Taster files

mutation t@sting

documentation

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

PALM2AKAP2

Ensembl transcript ID

ENST00000374530

Genbank transcript ID

NM_007203

UniProt peptide

Q9Y2D5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2375T>C
cDNA.2555T>C
g.357611T>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	357612	wt: 0.7363 / mu: 0.7626 (marginal change - not scored)	wt: ACGCTGGGGGACTCTCCGTTGGTTGATGACCCCTTGGAGTA mu: ACGCTGGGGGACTCTCCGTCGGTTGATGACCCCTTGGAGTA	gttg\|GTTG
Donor increased	357613	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

3492 / 3492

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

181 / 181

chromosome

strand

last intron/exon boundary

3394

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)

2555

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

357611

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

1.43 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
back to results table

mutation t@sting

documentation

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

PALM2AKAP2

Ensembl transcript ID

ENST00000302798

Genbank transcript ID

N/A

UniProt peptide

Q9Y2D5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.2375T>C
cDNA.2408T>C
g.357611T>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	357612	wt: 0.7363 / mu: 0.7626 (marginal change - not scored)	wt: ACGCTGGGGGACTCTCCGTTGGTTGATGACCCCTTGGAGTA mu: ACGCTGGGGGACTCTCCGTCGGTTGATGACCCCTTGGAGTA	gttg\|GTTG
Donor increased	357613	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

3273 / 3273

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

1091 / 1091

position of stopcodon in wt / mu cDNA

3306 / 3306

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

34 / 34

chromosome

strand

last intron/exon boundary

3208

theoretical NMD boundary in CDS

3124

length of CDS

3273

coding sequence (CDS) position

2375

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

2408

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

357611

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

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 RERMDDSSVL EATRVNRRKS ALALRWEAGI
YANQEEEDNE *

speed

1.57 s

mutation t@sting

documentation

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
protein features (might be) affected
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

ENST00000434623

Genbank transcript ID

NM_001198656

UniProt peptide

Q9Y2D5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1949T>C
cDNA.2051T>C
g.357431T>C

AA changes

L650S Score: 145 explain score(s)

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

650

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

650

mutated

not conserved

650

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

966

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000002238

576

protein features

start (aa)	end (aa)	feature	details
651	651	CONFLICT	L -> P (in Ref. 3; BAG51862).	might get lost (downstream of altered splice site)
710	748	COILED	Potential.	might get lost (downstream of altered splice site)
719	719	CONFLICT	L -> S (in Ref. 3; BAG51862).	might get lost (downstream of altered splice site)
720	720	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
748	748	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
778	778	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2886 / 2886

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

962 / 962

position of stopcodon in wt / mu cDNA

2988 / 2988

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

103 / 103

chromosome

strand

last intron/exon boundary

2890

theoretical NMD boundary in CDS

2737

length of CDS

2886

coding sequence (CDS) position

1949

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

2051

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

MRWPQPGAAA RLPPESPGPP ESPGPPEREA AAARRWTGAE PQDCAPGSGR PEKPPQLSED
DIWLKSEGDN YSATLLEPAA SSLSPDHKNM EIEVSVAECK SVPGITSTPH PMDHPSAFYS
PPHNGLLTDH HESLDNDVAR EIRYLDEVLE ANCCDSAVDG TYNGTSSPEP GAVVLVGGLS
PPVHEATQPE PTERTASRQA PPHIELSNSS PDPMAEAERT NGHSPSQPRD ALGDSLQVPV
SPSSTTSSRC SSRDGEFTLT TLKKEAKFEL RAFHEDKKPS KLFEDDEHEK EQYCIRKVRP
SEEMLELEKE RRELIRSQAV KKNPGIAAKW WNPPQEKTIE EQLDEEHLES HKKYKERKER
RAQQEQLLLQ KQLQQQQQQP PSQLCTAPAS SHERASMIDK AKEDIVTEQI DFSAARKQFQ
LMENSRQAVA KGQSTPRLFS IKPFYRPLGS VNSDKPLTNP RPPSVGGPPE DSGASAAKGQ
KSPGALETPS AAGSQGNTAS QGKEGPYSEP SKRGPLSKLW AEDGEFTSAR AVLTVVKDDD
HGILDQFSRS VNVSLTQEEL DSGLDELSVR SQDTTVLETL SNDFSMDNIS DSGASNETTN
ALQENSLADF SLPQTPQTDN PSEGRGEGVS KSFSDHGFYS PSSTLGDSPL VDDPLEYQAG
LLVQNAIQQA IAEQVDKAVS KTSRDGAEQQ GPEATVEEAE AAAFGSEKPQ SMFEPPQVSS
PVQEKRDVLP KILPAEDRAL RERGPPQPLP AVQPSGPINM EETRPEGSYF SKYSEAAELR
STASLLATQE SDVMVGPFKL RSRKQRTLSM IEEEIRAAQE REEELKRQRQ VLQSTQSPRT
KNAPSLPSRT CYKTAPGKIE KVKPPPSPTT EGPSLQPDLA PEEAAGTQRP KNLMQTLMED
YETHKSKRRE RMDDSSYTSK LLSCKVTSEV LEATRVNRRK SALALRWEAG IYANQEEEDN
E*

mutated AA sequence

MRWPQPGAAA RLPPESPGPP ESPGPPEREA AAARRWTGAE PQDCAPGSGR PEKPPQLSED
DIWLKSEGDN YSATLLEPAA SSLSPDHKNM EIEVSVAECK SVPGITSTPH PMDHPSAFYS
PPHNGLLTDH HESLDNDVAR EIRYLDEVLE ANCCDSAVDG TYNGTSSPEP GAVVLVGGLS
PPVHEATQPE PTERTASRQA PPHIELSNSS PDPMAEAERT NGHSPSQPRD ALGDSLQVPV
SPSSTTSSRC SSRDGEFTLT TLKKEAKFEL RAFHEDKKPS KLFEDDEHEK EQYCIRKVRP
SEEMLELEKE RRELIRSQAV KKNPGIAAKW WNPPQEKTIE EQLDEEHLES HKKYKERKER
RAQQEQLLLQ KQLQQQQQQP PSQLCTAPAS SHERASMIDK AKEDIVTEQI DFSAARKQFQ
LMENSRQAVA KGQSTPRLFS IKPFYRPLGS VNSDKPLTNP RPPSVGGPPE DSGASAAKGQ
KSPGALETPS AAGSQGNTAS QGKEGPYSEP SKRGPLSKLW AEDGEFTSAR AVLTVVKDDD
HGILDQFSRS VNVSLTQEEL DSGLDELSVR SQDTTVLETL SNDFSMDNIS DSGASNETTN
ALQENSLADF SLPQTPQTDN PSEGRGEGVS KSFSDHGFYS PSSTLGDSPS VDDPLEYQAG
LLVQNAIQQA IAEQVDKAVS KTSRDGAEQQ GPEATVEEAE AAAFGSEKPQ SMFEPPQVSS
PVQEKRDVLP KILPAEDRAL RERGPPQPLP AVQPSGPINM EETRPEGSYF SKYSEAAELR
STASLLATQE SDVMVGPFKL RSRKQRTLSM IEEEIRAAQE REEELKRQRQ VLQSTQSPRT
KNAPSLPSRT CYKTAPGKIE KVKPPPSPTT EGPSLQPDLA PEEAAGTQRP KNLMQTLMED
YETHKSKRRE RMDDSSYTSK LLSCKVTSEV LEATRVNRRK SALALRWEAG IYANQEEEDN
E*

speed

1.44 s

mutation t@sting

documentation

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
protein features (might be) affected
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

ENST00000374525

Genbank transcript ID

NM_001004065

UniProt peptide

Q9Y2D5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1949T>C
cDNA.1953T>C
g.357431T>C

AA changes

L650S Score: 145 explain score(s)

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

650

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

650

mutated

not conserved

650

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

966

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

not conserved

ENSXETG00000002238

576

protein features

start (aa)	end (aa)	feature	details
651	651	CONFLICT	L -> P (in Ref. 3; BAG51862).	might get lost (downstream of altered splice site)
710	748	COILED	Potential.	might get lost (downstream of altered splice site)
719	719	CONFLICT	L -> S (in Ref. 3; BAG51862).	might get lost (downstream of altered splice site)
720	720	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
748	748	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
778	778	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2847 / 2847

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

949 / 949

position of stopcodon in wt / mu cDNA

2851 / 2851

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

5 / 5

chromosome

strand

last intron/exon boundary

2753

theoretical NMD boundary in CDS

2698

length of CDS

2847

coding sequence (CDS) position

1949

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

1953

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

mutated AA sequence

MRWPQPGAAA RLPPESPGPP ESPGPPEREA AAARRWTGAE PQDCAPGSGR PEKPPQLSED
DIWLKSEGDN YSATLLEPAA SSLSPDHKNM EIEVSVAECK SVPGITSTPH PMDHPSAFYS
PPHNGLLTDH HESLDNDVAR EIRYLDEVLE ANCCDSAVDG TYNGTSSPEP GAVVLVGGLS
PPVHEATQPE PTERTASRQA PPHIELSNSS PDPMAEAERT NGHSPSQPRD ALGDSLQVPV
SPSSTTSSRC SSRDGEFTLT TLKKEAKFEL RAFHEDKKPS KLFEDDEHEK EQYCIRKVRP
SEEMLELEKE RRELIRSQAV KKNPGIAAKW WNPPQEKTIE EQLDEEHLES HKKYKERKER
RAQQEQLLLQ KQLQQQQQQP PSQLCTAPAS SHERASMIDK AKEDIVTEQI DFSAARKQFQ
LMENSRQAVA KGQSTPRLFS IKPFYRPLGS VNSDKPLTNP RPPSVGGPPE DSGASAAKGQ
KSPGALETPS AAGSQGNTAS QGKEGPYSEP SKRGPLSKLW AEDGEFTSAR AVLTVVKDDD
HGILDQFSRS VNVSLTQEEL DSGLDELSVR SQDTTVLETL SNDFSMDNIS DSGASNETTN
ALQENSLADF SLPQTPQTDN PSEGRGEGVS KSFSDHGFYS PSSTLGDSPS VDDPLEYQAG
LLVQNAIQQA IAEQVDKAVS KTSRDGAEQQ GPEATVEEAE AAAFGSEKPQ SMFEPPQVSS
PVQEKRDVLP KILPAEDRAL RERGPPQPLP AVQPSGPINM EETRPEGSYF SKYSEAAELR
STASLLATQE SDVMVGPFKL RSRKQRTLSM IEEEIRAAQE REEELKRQRQ VLQSTQSPRT
KNAPSLPSRT CYKTAPGKIE KVKPPPSPTT EGPSLQPDLA PEEAAGTQRP KNLMQTLMED
YETHKSKRRE RMDDSSVLEA TRVNRRKSAL ALRWEAGIYA NQEEEDNE*

speed

1.39 s

mutation t@sting

documentation

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

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

0.48 s

mutation t@sting

documentation

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
protein features (might be) affected
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

ENST00000259318

Genbank transcript ID

NM_001136562

UniProt peptide

Q9Y2D5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1682T>C
cDNA.1889T>C
g.357431T>C

AA changes

L561S Score: 145 explain score(s)

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

561

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

561

mutated

not conserved

561

Ptroglodytes

no homologue

Mmulatta

not conserved

ENSMMUG00000002361

780

Fcatus

no alignment

ENSFCAG00000004456

n/a

Mmusculus

not conserved

ENSMUSG00000038729

623

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

578

protein features

start (aa)	end (aa)	feature	details
566	579	REGION	PKA-RII subunit binding domain.	might get lost (downstream of altered splice site)
631	631	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
647	647	CONFLICT	E -> G (in Ref. 7; CAB53707).	might get lost (downstream of altered splice site)
651	651	CONFLICT	L -> P (in Ref. 3; BAG51862).	might get lost (downstream of altered splice site)
710	748	COILED	Potential.	might get lost (downstream of altered splice site)
719	719	CONFLICT	L -> S (in Ref. 3; BAG51862).	might get lost (downstream of altered splice site)
720	720	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
748	748	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
778	778	MOD_RES	Phosphoserine (By similarity).	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2580 / 2580

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

860 / 860

position of stopcodon in wt / mu cDNA

2787 / 2787

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

208 / 208

chromosome

strand

last intron/exon boundary

2689

theoretical NMD boundary in CDS

2431

length of CDS

2580

coding sequence (CDS) position

1682

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

1889

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

MEIEVSVAEC KSVPGITSTP HPMDHPSAFY SPPHNGLLTD HHESLDNDVA REIRYLDEVL
EANCCDSAVD GTYNGTSSPE PGAVVLVGGL SPPVHEATQP EPTERTASRQ APPHIELSNS
SPDPMAEAER TNGHSPSQPR DALGDSLQVP VSPSSTTSSR CSSRDGEFTL TTLKKEAKFE
LRAFHEDKKP SKLFEDDEHE KEQYCIRKVR PSEEMLELEK ERRELIRSQA VKKNPGIAAK
WWNPPQEKTI EEQLDEEHLE SHKKYKERKE RRAQQEQLLL QKQLQQQQQQ PPSQLCTAPA
SSHERASMID KAKEDIVTEQ IDFSAARKQF QLMENSRQAV AKGQSTPRLF SIKPFYRPLG
SVNSDKPLTN PRPPSVGGPP EDSGASAAKG QKSPGALETP SAAGSQGNTA SQGKEGPYSE
PSKRGPLSKL WAEDGEFTSA RAVLTVVKDD DHGILDQFSR SVNVSLTQEE LDSGLDELSV
RSQDTTVLET LSNDFSMDNI SDSGASNETT NALQENSLAD FSLPQTPQTD NPSEGRGEGV
SKSFSDHGFY SPSSTLGDSP LVDDPLEYQA GLLVQNAIQQ AIAEQVDKAV SKTSRDGAEQ
QGPEATVEEA EAAAFGSEKP QSMFEPPQVS SPVQEKRDVL PKILPAEDRA LRERGPPQPL
PAVQPSGPIN MEETRPEGSY FSKYSEAAEL RSTASLLATQ ESDVMVGPFK LRSRKQRTLS
MIEEEIRAAQ EREEELKRQR QVLQSTQSPR TKNAPSLPSR TCYKTAPGKI EKVKPPPSPT
TEGPSLQPDL APEEAAGTQR PKNLMQTLME DYETHKSKRR ERMDDSSVLE ATRVNRRKSA
LALRWEAGIY ANQEEEDNE*

mutated AA sequence

MEIEVSVAEC KSVPGITSTP HPMDHPSAFY SPPHNGLLTD HHESLDNDVA REIRYLDEVL
EANCCDSAVD GTYNGTSSPE PGAVVLVGGL SPPVHEATQP EPTERTASRQ APPHIELSNS
SPDPMAEAER TNGHSPSQPR DALGDSLQVP VSPSSTTSSR CSSRDGEFTL TTLKKEAKFE
LRAFHEDKKP SKLFEDDEHE KEQYCIRKVR PSEEMLELEK ERRELIRSQA VKKNPGIAAK
WWNPPQEKTI EEQLDEEHLE SHKKYKERKE RRAQQEQLLL QKQLQQQQQQ PPSQLCTAPA
SSHERASMID KAKEDIVTEQ IDFSAARKQF QLMENSRQAV AKGQSTPRLF SIKPFYRPLG
SVNSDKPLTN PRPPSVGGPP EDSGASAAKG QKSPGALETP SAAGSQGNTA SQGKEGPYSE
PSKRGPLSKL WAEDGEFTSA RAVLTVVKDD DHGILDQFSR SVNVSLTQEE LDSGLDELSV
RSQDTTVLET LSNDFSMDNI SDSGASNETT NALQENSLAD FSLPQTPQTD NPSEGRGEGV
SKSFSDHGFY SPSSTLGDSP SVDDPLEYQA GLLVQNAIQQ AIAEQVDKAV SKTSRDGAEQ
QGPEATVEEA EAAAFGSEKP QSMFEPPQVS SPVQEKRDVL PKILPAEDRA LRERGPPQPL
PAVQPSGPIN MEETRPEGSY FSKYSEAAEL RSTASLLATQ ESDVMVGPFK LRSRKQRTLS
MIEEEIRAAQ EREEELKRQR QVLQSTQSPR TKNAPSLPSR TCYKTAPGKI EKVKPPPSPT
TEGPSLQPDL APEEAAGTQR PKNLMQTLME DYETHKSKRR ERMDDSSVLE ATRVNRRKSA
LALRWEAGIY ANQEEEDNE*

speed

1.03 s

mutation t@sting

documentation

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

ENST00000510514

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

3273 / 3273

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

1091 / 1091

position of stopcodon in wt / mu cDNA

3273 / 3273

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

3175

theoretical NMD boundary in CDS

3124

length of CDS

3273

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

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 RERMDDSSVL EATRVNRRKS ALALRWEAGI
YANQEEEDNE *

speed

1.26 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems