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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000317623
Querying Taster for transcript #2: ENST00000406854
Querying Taster for transcript #3: ENST00000406949
Querying Taster for transcript #4: ENST00000404681
MT speed 3.33 s - this script 3.934866 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PCNX4	polymorphism_automatic	0.000111234932135051	simple_aae				V411I	single base exchange	rs150688		show file
PCNX4	polymorphism_automatic	0.000111234932135051	simple_aae				V411I	single base exchange	rs150688		show file
PCNX4	polymorphism_automatic	0.000249157007781053	simple_aae				V177I	single base exchange	rs150688		show file
PCNX4	polymorphism_automatic	0.000249157007781053	simple_aae				V177I	single base exchange	rs150688		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999888765067865 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:60582053G>AN/A show variant in all transcripts IGV

HGNC symbol

PCNX4

Ensembl transcript ID

ENST00000406854

Genbank transcript ID

N/A

UniProt peptide

Q63HM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1231G>A
cDNA.1785G>A
g.23425G>A

AA changes

V411I Score: 29 explain score(s)

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

411

frameshift

known variant

Reference ID: rs150688

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1137	988	2125
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.066	0.625
	0.658	0.631
(flanking)	2.175	0.643

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

127

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

411

mutated

all conserved

411

Ptroglodytes

all identical

ENSPTRG00000006405

411

Mmulatta

all identical

ENSMMUG00000015443

180

Fcatus

no alignment

ENSFCAG00000019228

n/a

Mmusculus

all conserved

ENSMUSG00000034501

423

Ggallus

all identical

ENSGALG00000011922

421

Trubripes

not conserved

ENSTRUG00000010325

427

Drerio

not conserved

ENSDARG00000060785

428

Dmelanogaster

no homologue

Celegans

no alignment

B0511.12

n/a

Xtropicalis

not conserved

ENSXETG00000016956

419

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3519 / 3519

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

1173 / 1173

position of stopcodon in wt / mu cDNA

4073 / 4073

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

555 / 555

chromosome

strand

last intron/exon boundary

3822

theoretical NMD boundary in CDS

3217

length of CDS

3519

coding sequence (CDS) position

1231

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

1785

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

23425

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

60582053

original gDNA sequence snippet

TACTTAGAGAAATTCAAAGCGTATATATCATTGGAATTTTC

altered gDNA sequence snippet

TACTTAGAGAAATTCAAAGCATATATATCATTGGAATTTTC

original cDNA sequence snippet

TACTTAGAGAAATTCAAAGCGTATATATCATTGGAATTTTC

altered cDNA sequence snippet

TACTTAGAGAAATTCAAAGCATATATATCATTGGAATTTTC

wildtype AA sequence

MSPDVPLLND YKQDFFLKRF PQTVLGGPRF KLGYCAPPYI YVNQIILFLM PWVWGGVGTL
LYQLGILKDY YTAALSGGLM LFTAFVIQFT SLYAKNKSTT VERILTTDIL AEEDEHEFTS
CTGAETVKFL IPGKKYVANT VFHSILAGLA CGLGTWYLLP NRITLLYGST GGTALLFFFG
WMTLCIAEYS LIVNTATETA TFQTQDTYEI IPLMRPLYIF FFVSVDLAHR FVVNMPALEH
MNQILHILFV FLPFLWALGT LPPPDALLLW AMEQVLEFGL GGSSMSTHLR LLVMFIMSAG
TAIASYFIPS TVGVVLFMTG FGFLLSLNLS DMGHKIGTKS KDLPSGPEKH FSWKECLFYI
IILVLALLET SLLHHFAGFS QISKSNSQAI VGYGLMILLI ILWILREIQS VYIIGIFRNP
FYPKDVQTVT VFFEKQTRLM KIGIVRRILL TLVSPFAMIA FLSLDSSLQG LHSVSVCIGF
TRAFRMVWQN TENALLETVI VSTVHLISST DIWWNRSLDT GLRLLLVGII RDRLIQFISK
LQFAVTVLLT SWTEKKQRRK TTATLCILNI VFSPFVLVII VFSTLLSSPL LPLFTLPVFL
VGFPRPIQSW PGAAGTTACV CADTVYYYQM VPRLTAVLQT AMAAGSLGLL LPGSHYLGRF
QDRLMWIMIL ECGYTYCSIN IKGLELQETS CHTAEARRVD EVFEDAFEQE YTRVCSLNEH
FGNVLTPCTV LPVKLYSDAR NVLSGIIDSH ENLKEFKGDL IKVLVWILVQ YCSKRPGMKE
NVHNTENKGK APLMLPALNT LPPPKSPEDI DSLNSETFND WSDDNIFDDE PTIKKVIEEK
HQLKDLPGTN LFIPGSVESQ RVGDHSTGTV PENDLYKAVL LGYPAVDKGK QEDMPYIPLM
EFSCSHSHLV CLPAEWRTSC MPSSKMKEMS SLFPEDWYQF VLRQLECYHS EEKASNVLEE
IAKDKVLKDF YVHTVMTCYF SLFGIDNMAP SPGHILRVYG GVLPWSVALD WLTEKPELFQ
LALKAFRYTL KLMIDKASLG PIEDFRELIK YLEEYERDWY IGLVSDEKWK EAILQEKPYL
FSLGYDSNMG IYTGRVLSLQ ELLIQVGKLN PEAVRGQWAN LSWELLYATN DDEERYSIQA
HPLLLRNLTV QAAEPPLGYP IYSSKPLHIH LY*

mutated AA sequence

MSPDVPLLND YKQDFFLKRF PQTVLGGPRF KLGYCAPPYI YVNQIILFLM PWVWGGVGTL
LYQLGILKDY YTAALSGGLM LFTAFVIQFT SLYAKNKSTT VERILTTDIL AEEDEHEFTS
CTGAETVKFL IPGKKYVANT VFHSILAGLA CGLGTWYLLP NRITLLYGST GGTALLFFFG
WMTLCIAEYS LIVNTATETA TFQTQDTYEI IPLMRPLYIF FFVSVDLAHR FVVNMPALEH
MNQILHILFV FLPFLWALGT LPPPDALLLW AMEQVLEFGL GGSSMSTHLR LLVMFIMSAG
TAIASYFIPS TVGVVLFMTG FGFLLSLNLS DMGHKIGTKS KDLPSGPEKH FSWKECLFYI
IILVLALLET SLLHHFAGFS QISKSNSQAI VGYGLMILLI ILWILREIQS IYIIGIFRNP
FYPKDVQTVT VFFEKQTRLM KIGIVRRILL TLVSPFAMIA FLSLDSSLQG LHSVSVCIGF
TRAFRMVWQN TENALLETVI VSTVHLISST DIWWNRSLDT GLRLLLVGII RDRLIQFISK
LQFAVTVLLT SWTEKKQRRK TTATLCILNI VFSPFVLVII VFSTLLSSPL LPLFTLPVFL
VGFPRPIQSW PGAAGTTACV CADTVYYYQM VPRLTAVLQT AMAAGSLGLL LPGSHYLGRF
QDRLMWIMIL ECGYTYCSIN IKGLELQETS CHTAEARRVD EVFEDAFEQE YTRVCSLNEH
FGNVLTPCTV LPVKLYSDAR NVLSGIIDSH ENLKEFKGDL IKVLVWILVQ YCSKRPGMKE
NVHNTENKGK APLMLPALNT LPPPKSPEDI DSLNSETFND WSDDNIFDDE PTIKKVIEEK
HQLKDLPGTN LFIPGSVESQ RVGDHSTGTV PENDLYKAVL LGYPAVDKGK QEDMPYIPLM
EFSCSHSHLV CLPAEWRTSC MPSSKMKEMS SLFPEDWYQF VLRQLECYHS EEKASNVLEE
IAKDKVLKDF YVHTVMTCYF SLFGIDNMAP SPGHILRVYG GVLPWSVALD WLTEKPELFQ
LALKAFRYTL KLMIDKASLG PIEDFRELIK YLEEYERDWY IGLVSDEKWK EAILQEKPYL
FSLGYDSNMG IYTGRVLSLQ ELLIQVGKLN PEAVRGQWAN LSWELLYATN DDEERYSIQA
HPLLLRNLTV QAAEPPLGYP IYSSKPLHIH LY*

speed

0.79 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: 0.999888765067865 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:60582053G>AN/A show variant in all transcripts IGV

HGNC symbol

PCNX4

Ensembl transcript ID

ENST00000404681

Genbank transcript ID

N/A

UniProt peptide

Q63HM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1231G>A
cDNA.1231G>A
g.23425G>A

AA changes

V411I Score: 29 explain score(s)

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

411

frameshift

known variant

Reference ID: rs150688

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1137	988	2125
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.066	0.625
	0.658	0.631
(flanking)	2.175	0.643

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

127

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

411

mutated

all conserved

411

Ptroglodytes

all identical

ENSPTRG00000006405

411

Mmulatta

all identical

ENSMMUG00000015443

180

Fcatus

no alignment

ENSFCAG00000019228

n/a

Mmusculus

all conserved

ENSMUSG00000034501

423

Ggallus

all identical

ENSGALG00000011922

421

Trubripes

not conserved

ENSTRUG00000010325

427

Drerio

not conserved

ENSDARG00000060785

428

Dmelanogaster

no homologue

Celegans

no alignment

B0511.12

n/a

Xtropicalis

not conserved

ENSXETG00000016956

419

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3519 / 3519

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

1173 / 1173

position of stopcodon in wt / mu cDNA

3519 / 3519

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

3268

theoretical NMD boundary in CDS

3217

length of CDS

3519

coding sequence (CDS) position

1231

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

1231

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

23425

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

60582053

original gDNA sequence snippet

TACTTAGAGAAATTCAAAGCGTATATATCATTGGAATTTTC

altered gDNA sequence snippet

TACTTAGAGAAATTCAAAGCATATATATCATTGGAATTTTC

original cDNA sequence snippet

TACTTAGAGAAATTCAAAGCGTATATATCATTGGAATTTTC

altered cDNA sequence snippet

TACTTAGAGAAATTCAAAGCATATATATCATTGGAATTTTC

wildtype AA sequence

mutated AA sequence

MSPDVPLLND YKQDFFLKRF PQTVLGGPRF KLGYCAPPYI YVNQIILFLM PWVWGGVGTL
LYQLGILKDY YTAALSGGLM LFTAFVIQFT SLYAKNKSTT VERILTTDIL AEEDEHEFTS
CTGAETVKFL IPGKKYVANT VFHSILAGLA CGLGTWYLLP NRITLLYGST GGTALLFFFG
WMTLCIAEYS LIVNTATETA TFQTQDTYEI IPLMRPLYIF FFVSVDLAHR FVVNMPALEH
MNQILHILFV FLPFLWALGT LPPPDALLLW AMEQVLEFGL GGSSMSTHLR LLVMFIMSAG
TAIASYFIPS TVGVVLFMTG FGFLLSLNLS DMGHKIGTKS KDLPSGPEKH FSWKECLFYI
IILVLALLET SLLHHFAGFS QISKSNSQAI VGYGLMILLI ILWILREIQS IYIIGIFRNP
FYPKDVQTVT VFFEKQTRLM KIGIVRRILL TLVSPFAMIA FLSLDSSLQG LHSVSVCIGF
TRAFRMVWQN TENALLETVI VSTVHLISST DIWWNRSLDT GLRLLLVGII RDRLIQFISK
LQFAVTVLLT SWTEKKQRRK TTATLCILNI VFSPFVLVII VFSTLLSSPL LPLFTLPVFL
VGFPRPIQSW PGAAGTTACV CADTVYYYQM VPRLTAVLQT AMAAGSLGLL LPGSHYLGRF
QDRLMWIMIL ECGYTYCSIN IKGLELQETS CHTAEARRVD EVFEDAFEQE YTRVCSLNEH
FGNVLTPCTV LPVKLYSDAR NVLSGIIDSH ENLKEFKGDL IKVLVWILVQ YCSKRPGMKE
NVHNTENKGK APLMLPALNT LPPPKSPEDI DSLNSETFND WSDDNIFDDE PTIKKVIEEK
HQLKDLPGTN LFIPGSVESQ RVGDHSTGTV PENDLYKAVL LGYPAVDKGK QEDMPYIPLM
EFSCSHSHLV CLPAEWRTSC MPSSKMKEMS SLFPEDWYQF VLRQLECYHS EEKASNVLEE
IAKDKVLKDF YVHTVMTCYF SLFGIDNMAP SPGHILRVYG GVLPWSVALD WLTEKPELFQ
LALKAFRYTL KLMIDKASLG PIEDFRELIK YLEEYERDWY IGLVSDEKWK EAILQEKPYL
FSLGYDSNMG IYTGRVLSLQ ELLIQVGKLN PEAVRGQWAN LSWELLYATN DDEERYSIQA
HPLLLRNLTV QAAEPPLGYP IYSSKPLHIH LY*

speed

0.89 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999750842992219 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:60582053G>AN/A show variant in all transcripts IGV

HGNC symbol

PCNX4

Ensembl transcript ID

ENST00000317623

Genbank transcript ID

NM_022495

UniProt peptide

Q63HM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529G>A
cDNA.1051G>A
g.23425G>A

AA changes

V177I Score: 29 explain score(s)

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

177

frameshift

known variant

Reference ID: rs150688

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1137	988	2125
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.066	0.625
	0.658	0.631
(flanking)	2.175	0.643

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

127

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

all conserved

177

Ptroglodytes

all identical

ENSPTRG00000006405

411

Mmulatta

all identical

ENSMMUG00000015443

180

Fcatus

no alignment

ENSFCAG00000019228

n/a

Mmusculus

all conserved

ENSMUSG00000034501

423

Ggallus

all identical

ENSGALG00000011922

421

Trubripes

not conserved

ENSTRUG00000010325

427

Drerio

not conserved

ENSDARG00000060785

428

Dmelanogaster

no homologue

Celegans

no alignment

B0511.12

n/a

Xtropicalis

not conserved

ENSXETG00000016956

418

protein features

start (aa)	end (aa)	feature	details
173	193	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2817 / 2817

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

939 / 939

position of stopcodon in wt / mu cDNA

3339 / 3339

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

523 / 523

chromosome

strand

last intron/exon boundary

3088

theoretical NMD boundary in CDS

2515

length of CDS

2817

coding sequence (CDS) position

529

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

1051

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

23425

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

60582053

original gDNA sequence snippet

TACTTAGAGAAATTCAAAGCGTATATATCATTGGAATTTTC

altered gDNA sequence snippet

TACTTAGAGAAATTCAAAGCATATATATCATTGGAATTTTC

original cDNA sequence snippet

TACTTAGAGAAATTCAAAGCGTATATATCATTGGAATTTTC

altered cDNA sequence snippet

TACTTAGAGAAATTCAAAGCATATATATCATTGGAATTTTC

wildtype AA sequence

MPALEHMNQI LHILFVFLPF LWALGTLPPP DALLLWAMEQ VLEFGLGGSS MSTHLRLLVM
FIMSAGTAIA SYFIPSTVGV VLFMTGFGFL LSLNLSDMGH KIGTKSKDLP SGPEKHFSWK
ECLFYIIILV LALLETSLLH HFAGFSQISK SNSQAIVGYG LMILLIILWI LREIQSVYII
GIFRNPFYPK DVQTVTVFFE KQTRLMKIGI VRRILLTLVS PFAMIAFLSL DSSLQGLHSV
SVCIGFTRAF RMVWQNTENA LLETVIVSTV HLISSTDIWW NRSLDTGLRL LLVGIIRDRL
IQFISKLQFA VTVLLTSWTE KKQRRKTTAT LCILNIVFSP FVLVIIVFST LLSSPLLPLF
TLPVFLVGFP RPIQSWPGAA GTTACVCADT VYYYQMVPRL TAVLQTAMAA GSLGLLLPGS
HYLGRFQDRL MWIMILECGY TYCSINIKGL ELQETSCHTA EARRVDEVFE DAFEQEYTRV
CSLNEHFGNV LTPCTVLPVK LYSDARNVLS GIIDSHENLK EFKGDLIKVL VWILVQYCSK
RPGMKENVHN TENKGKAPLM LPALNTLPPP KSPEDIDSLN SETFNDWSDD NIFDDEPTIK
KVIEEKHQLK DLPGTNLFIP GSVESQRVGD HSTGTVPEND LYKAVLLGYP AVDKGKQEDM
PYIPLMEFSC SHSHLVCLPA EWRTSCMPSS KMKEMSSLFP EDWYQFVLRQ LECYHSEEKA
SNVLEEIAKD KVLKDFYVHT VMTCYFSLFG IDNMAPSPGH ILRVYGGVLP WSVALDWLTE
KPELFQLALK AFRYTLKLMI DKASLGPIED FRELIKYLEE YERDWYIGLV SDEKWKEAIL
QEKPYLFSLG YDSNMGIYTG RVLSLQELLI QVGKLNPEAV RGQWANLSWE LLYATNDDEE
RYSIQAHPLL LRNLTVQAAE PPLGYPIYSS KPLHIHLY*

mutated AA sequence

MPALEHMNQI LHILFVFLPF LWALGTLPPP DALLLWAMEQ VLEFGLGGSS MSTHLRLLVM
FIMSAGTAIA SYFIPSTVGV VLFMTGFGFL LSLNLSDMGH KIGTKSKDLP SGPEKHFSWK
ECLFYIIILV LALLETSLLH HFAGFSQISK SNSQAIVGYG LMILLIILWI LREIQSIYII
GIFRNPFYPK DVQTVTVFFE KQTRLMKIGI VRRILLTLVS PFAMIAFLSL DSSLQGLHSV
SVCIGFTRAF RMVWQNTENA LLETVIVSTV HLISSTDIWW NRSLDTGLRL LLVGIIRDRL
IQFISKLQFA VTVLLTSWTE KKQRRKTTAT LCILNIVFSP FVLVIIVFST LLSSPLLPLF
TLPVFLVGFP RPIQSWPGAA GTTACVCADT VYYYQMVPRL TAVLQTAMAA GSLGLLLPGS
HYLGRFQDRL MWIMILECGY TYCSINIKGL ELQETSCHTA EARRVDEVFE DAFEQEYTRV
CSLNEHFGNV LTPCTVLPVK LYSDARNVLS GIIDSHENLK EFKGDLIKVL VWILVQYCSK
RPGMKENVHN TENKGKAPLM LPALNTLPPP KSPEDIDSLN SETFNDWSDD NIFDDEPTIK
KVIEEKHQLK DLPGTNLFIP GSVESQRVGD HSTGTVPEND LYKAVLLGYP AVDKGKQEDM
PYIPLMEFSC SHSHLVCLPA EWRTSCMPSS KMKEMSSLFP EDWYQFVLRQ LECYHSEEKA
SNVLEEIAKD KVLKDFYVHT VMTCYFSLFG IDNMAPSPGH ILRVYGGVLP WSVALDWLTE
KPELFQLALK AFRYTLKLMI DKASLGPIED FRELIKYLEE YERDWYIGLV SDEKWKEAIL
QEKPYLFSLG YDSNMGIYTG RVLSLQELLI QVGKLNPEAV RGQWANLSWE LLYATNDDEE
RYSIQAHPLL LRNLTVQAAE PPLGYPIYSS KPLHIHLY*

speed

0.76 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999750842992219 (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

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr14:60582053G>AN/A show variant in all transcripts IGV

HGNC symbol

PCNX4

Ensembl transcript ID

ENST00000406949

Genbank transcript ID

N/A

UniProt peptide

Q63HM2

alteration type

single base exchange

alteration region

CDS

DNA changes

c.529G>A
cDNA.1035G>A
g.23425G>A

AA changes

V177I Score: 29 explain score(s)

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

177

frameshift

known variant

Reference ID: rs150688

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1137	988	2125
ExAC	-	-	-

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.066	0.625
	0.658	0.631
(flanking)	2.175	0.643

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

no abrogation of potential splice sites

distance from splice site

127

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

177

mutated

all conserved

177

Ptroglodytes

all identical

ENSPTRG00000006405

411

Mmulatta

all identical

ENSMMUG00000015443

180

Fcatus

no alignment

ENSFCAG00000019228

n/a

Mmusculus

all conserved

ENSMUSG00000034501

423

Ggallus

all identical

ENSGALG00000011922

421

Trubripes

not conserved

ENSTRUG00000010325

427

Drerio

not conserved

ENSDARG00000060785

428

Dmelanogaster

no homologue

Celegans

no alignment

B0511.12

n/a

Xtropicalis

not conserved

ENSXETG00000016956

418

protein features

start (aa)	end (aa)	feature	details
173	193	TRANSMEM	Helical; (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2622 / 2622

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

874 / 874

position of stopcodon in wt / mu cDNA

3128 / 3128

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

507 / 507

chromosome

strand

last intron/exon boundary

3072

theoretical NMD boundary in CDS

2515

length of CDS

2622

coding sequence (CDS) position

529

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

1035

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

23425

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

60582053

original gDNA sequence snippet

TACTTAGAGAAATTCAAAGCGTATATATCATTGGAATTTTC

altered gDNA sequence snippet

TACTTAGAGAAATTCAAAGCATATATATCATTGGAATTTTC

original cDNA sequence snippet

TACTTAGAGAAATTCAAAGCGTATATATCATTGGAATTTTC

altered cDNA sequence snippet

TACTTAGAGAAATTCAAAGCATATATATCATTGGAATTTTC

wildtype AA sequence

mutated AA sequence

MPALEHMNQI LHILFVFLPF LWALGTLPPP DALLLWAMEQ VLEFGLGGSS MSTHLRLLVM
FIMSAGTAIA SYFIPSTVGV VLFMTGFGFL LSLNLSDMGH KIGTKSKDLP SGPEKHFSWK
ECLFYIIILV LALLETSLLH HFAGFSQISK SNSQAIVGYG LMILLIILWI LREIQSIYII
GIFRNPFYPK DVQTVTVFFE KQTRLMKIGI VRRILLTLVS PFAMIAFLSL DSSLQGLHSV
SVCIGFTRAF RMVWQNTENA LLETVIVSTV HLISSTDIWW NRSLDTGLRL LLVGIIRDRL
IQFISKLQFA VTVLLTSWTE KKQRRKTTAT LCILNIVFSP FVLVIIVFST LLSSPLLPLF
TLPVFLVGFP RPIQSWPGAA GTTACVCADT VYYYQMVPRL TAVLQTAMAA GSLGLLLPGS
HYLGRFQDRL MWIMILECGY TYCSINIKGL ELQETSCHTA EARRVDEVFE DAFEQEYTRV
CSLNEHFGNV LTPCTVLPVK LYSDARNVLS GIIDSHENLK EFKGDLIKVL VWILVQYCSK
RPGMKENVHN TENKGKAPLM LPALNTLPPP KSPEDIDSLN SETFNDWSDD NIFDDEPTIK
KVIEEKHQLK DLPGTNLFIP GSVESQRVGD HSTGTVPEND LYKAVLLGYP AVDKGKQEDM
PYIPLMEFSC SHSHLVCLPA EWRTSCMPSS KMKEMSSLFP EDWYQFVLRQ LECYHSEEKA
SNVLEEIAKD KVLKDFYVHT VMTCYFSLFG IDNMAPSPGH ILRVYGGVLP WSVALDWLTE
KPELFQLALK AFRYTLKLMI DKASLGPIED FRELIKYLEE YERDWYIGLV SDEKWKEAIL
QEKPYLFSLG YDSNMPGPAL EISRVNRNLW SQI*

speed

0.89 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

Problems