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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000374434
Querying Taster for transcript #2: ENST00000330966
Querying Taster for transcript #3: ENST00000329601
MT speed 0 s - this script 2.801092 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MYOM3	polymorphism_automatic	0.99954447541982	simple_aae				G662R	single base exchange	rs4320729		show file
MYOM3	polymorphism_automatic	0.99954447541982	simple_aae				G663R	single base exchange	rs4320729		show file
MYOM3	polymorphism_automatic	0.99954447541982	simple_aae				G662R	single base exchange	rs4320729		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.000455524580179693 (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)

chr1:24409191C>TN/A show variant in all transcripts IGV

HGNC symbol

MYOM3

Ensembl transcript ID

ENST00000374434

Genbank transcript ID

NM_152372

UniProt peptide

Q5VTT5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1984G>A
cDNA.2147G>A
g.29475G>A

AA changes

G662R Score: 125 explain score(s)

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

662

frameshift

known variant

Reference ID: rs4320729

database	homozygous (T/T)	heterozygous	allele carriers
1000G	248	790	1038
ExAC	8893	14981	23874

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.72	1
	4.205	0.996
(flanking)	-2.515	0.115

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	29481	wt: 0.2513 / mu: 0.2524 (marginal change - not scored)	wt: GGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAGTACGAG mu: GGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAGTACGAG	ctga\|GGAC
Acc marginally increased	29475	wt: 0.6211 / mu: 0.6618 (marginal change - not scored)	wt: CTCCCAGGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAG mu: CTCCCAGGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAG	cccg\|GGCT
Acc marginally increased	29466	wt: 0.2535 / mu: 0.2878 (marginal change - not scored)	wt: CACATTTCTCTCCCAGGTTTACAGTTCCCGGGCTGAGGACG mu: CACATTTCTCTCCCAGGTTTACAGTTCCCAGGCTGAGGACG	ttta\|CAGT
Donor marginally increased	29476	wt: 0.9713 / mu: 0.9921 (marginal change - not scored)	wt: TCCCGGGCTGAGGAC mu: TCCCAGGCTGAGGAC	CCGG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

662

mutated

not conserved

662

Ptroglodytes

all identical

ENSPTRG00000000341

662

Mmulatta

all identical

ENSMMUG00000023052

397

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000037139

664

Ggallus

all identical

ENSGALG00000004155

636

Trubripes

no alignment

ENSTRUG00000007897

n/a

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
603	691	DOMAIN	Fibronectin type-III 3.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4314 / 4314

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

1438 / 1438

position of stopcodon in wt / mu cDNA

4477 / 4477

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

164 / 164

chromosome

strand

-1

last intron/exon boundary

4214

theoretical NMD boundary in CDS

4000

length of CDS

4314

coding sequence (CDS) position

1984

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

2147

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

29475

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

24409191

original gDNA sequence snippet

CTCCCAGGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAG

altered gDNA sequence snippet

CTCCCAGGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAG

original cDNA sequence snippet

GCACCAGGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAG

altered cDNA sequence snippet

GCACCAGGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAG

wildtype AA sequence

MTLPHSLGGA GDPRPPQAME VHRLEHRQEE EQKEERQHSL RMGSSVRRRT FRSSEEEHEF
SAADYALAAA LALTASSELS WEAQLRRQTS AVELEERGQK RVGFGNDWER TEIAFLQTHR
LLRQRRDWKT LRRRTEEKVQ EAKELRELCY GRGPWFWIPL RSHAVWEHTT VLLTCTVQAS
PPPQVTWYKN DTRIDPRLFR AGKYRITNNY GLLSLEIRRC AIEDSATYTV RVKNAHGQAS
SFAKVLVRTY LGKDAGFDSE IFKRSTFGPS VEFTSVLKPV FAREKEPFSL SCLFSEDVLD
AESIQWFRDG SLLRSSRRRK ILYTDRQASL KVSCTYKEDE GLYMVRVPSP FGPREQSTYV
LVRDAEAENP GAPGSPLNVR CLDVNRDCLI LTWAPPSDTR GNPITAYTIE RCQGESGEWI
ACHEAPGGTC RCPIQGLVEG QSYRFRVRAI SRVGSSVPSK ASELVVMGDH DAARRKTEIP
FDLGNKITIS TDAFEDTVTI PSPPTNVHAS EIREAYVVLA WEEPSPRDRA PLTYSLEKSV
IGSGTWEAIS SESPVRSPRF AVLDLEKKKS YVFRVRAMNQ YGLSDPSEPS EPIALRGPPA
TLPPPAQVQA FRDTQTSVSL TWDPVKDPEL LGYYIYSRKV GTSEWQTVNN KPIQGTRFTV
PGLRTGKEYE FCVRSVSEAG VGESSAATEP IRVKQALATP SAPYGFALLN CGKNEMVIGW
KPPKRRGGGK ILGYFLDQHD SEELDWHAVN QQPIPTRVCK VSDLHEGHFY EFRARAANWA
GVGELSAPSS LFECKEWTMP QPGPPYDVRA SEVRATSLVL QWEPPLYMGA GPVTGYHVSF
QEEGSEQWKP VTPGPISGTH LRVSDLQPGK SYVFQVQAMN SAGLGQPSMP TDPVLLEDKP
GAHEIEVGVD EEGFIYLAFE APEAPDSSEF QWSKDYKGPL DPQRVKIEDK VNKSKVILKE
PGLEDLGTYS VIVTDADEDI SASHTLTEEE LEKLKKLSHE IRNPVIKLIS GWNIDILERG
EVRLWLEVEK LSPAAELHLI FNNKEIFSSP NRKINFDREK GLVEVIIQNL SEEDKGSYTA
QLQDGKAKNQ ITLTLVDDDF DKLLRKADAK RRDWKRKQGP YFERPLQWKV TEDCQVQLTC
KVTNTKKETR FQWFFQRAEM PDGQYDPETG TGLLCIEELS KKDKGIYRAM VSDDRGEDDT
ILDLTGDALD AIFTELGRIG ALSATPLKIQ GTEEGIRIFS KVKYYNVEYM KTTWFHKDKR
LESGDRIRTG TTLDEIWLHI LDPKDSDKGK YTLEIAAGKE VRQLSTDLSG QAFEDAMAEH
QRLKTLAIIE KNRAKVVRGL PDVATIMEDK TLCLTCIVSG DPTPEISWLK NDQPVTFLDR
YRMEVRGTEV TITIEKVNSE DSGRYGVFVK NKYGSETGQV TISVFKHGDE PKELKSM*

mutated AA sequence

MTLPHSLGGA GDPRPPQAME VHRLEHRQEE EQKEERQHSL RMGSSVRRRT FRSSEEEHEF
SAADYALAAA LALTASSELS WEAQLRRQTS AVELEERGQK RVGFGNDWER TEIAFLQTHR
LLRQRRDWKT LRRRTEEKVQ EAKELRELCY GRGPWFWIPL RSHAVWEHTT VLLTCTVQAS
PPPQVTWYKN DTRIDPRLFR AGKYRITNNY GLLSLEIRRC AIEDSATYTV RVKNAHGQAS
SFAKVLVRTY LGKDAGFDSE IFKRSTFGPS VEFTSVLKPV FAREKEPFSL SCLFSEDVLD
AESIQWFRDG SLLRSSRRRK ILYTDRQASL KVSCTYKEDE GLYMVRVPSP FGPREQSTYV
LVRDAEAENP GAPGSPLNVR CLDVNRDCLI LTWAPPSDTR GNPITAYTIE RCQGESGEWI
ACHEAPGGTC RCPIQGLVEG QSYRFRVRAI SRVGSSVPSK ASELVVMGDH DAARRKTEIP
FDLGNKITIS TDAFEDTVTI PSPPTNVHAS EIREAYVVLA WEEPSPRDRA PLTYSLEKSV
IGSGTWEAIS SESPVRSPRF AVLDLEKKKS YVFRVRAMNQ YGLSDPSEPS EPIALRGPPA
TLPPPAQVQA FRDTQTSVSL TWDPVKDPEL LGYYIYSRKV GTSEWQTVNN KPIQGTRFTV
PRLRTGKEYE FCVRSVSEAG VGESSAATEP IRVKQALATP SAPYGFALLN CGKNEMVIGW
KPPKRRGGGK ILGYFLDQHD SEELDWHAVN QQPIPTRVCK VSDLHEGHFY EFRARAANWA
GVGELSAPSS LFECKEWTMP QPGPPYDVRA SEVRATSLVL QWEPPLYMGA GPVTGYHVSF
QEEGSEQWKP VTPGPISGTH LRVSDLQPGK SYVFQVQAMN SAGLGQPSMP TDPVLLEDKP
GAHEIEVGVD EEGFIYLAFE APEAPDSSEF QWSKDYKGPL DPQRVKIEDK VNKSKVILKE
PGLEDLGTYS VIVTDADEDI SASHTLTEEE LEKLKKLSHE IRNPVIKLIS GWNIDILERG
EVRLWLEVEK LSPAAELHLI FNNKEIFSSP NRKINFDREK GLVEVIIQNL SEEDKGSYTA
QLQDGKAKNQ ITLTLVDDDF DKLLRKADAK RRDWKRKQGP YFERPLQWKV TEDCQVQLTC
KVTNTKKETR FQWFFQRAEM PDGQYDPETG TGLLCIEELS KKDKGIYRAM VSDDRGEDDT
ILDLTGDALD AIFTELGRIG ALSATPLKIQ GTEEGIRIFS KVKYYNVEYM KTTWFHKDKR
LESGDRIRTG TTLDEIWLHI LDPKDSDKGK YTLEIAAGKE VRQLSTDLSG QAFEDAMAEH
QRLKTLAIIE KNRAKVVRGL PDVATIMEDK TLCLTCIVSG DPTPEISWLK NDQPVTFLDR
YRMEVRGTEV TITIEKVNSE DSGRYGVFVK NKYGSETGQV TISVFKHGDE PKELKSM*

speed

0.47 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: 0.000455524580179693 (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)

chr1:24409191C>TN/A show variant in all transcripts IGV

HGNC symbol

MYOM3

Ensembl transcript ID

ENST00000330966

Genbank transcript ID

N/A

UniProt peptide

Q5VTT5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1987G>A
cDNA.2150G>A
g.29475G>A

AA changes

G663R Score: 125 explain score(s)

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

663

frameshift

known variant

Reference ID: rs4320729

database	homozygous (T/T)	heterozygous	allele carriers
1000G	248	790	1038
ExAC	8893	14981	23874

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.72	1
	4.205	0.996
(flanking)	-2.515	0.115

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	29481	wt: 0.2513 / mu: 0.2524 (marginal change - not scored)	wt: GGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAGTACGAG mu: GGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAGTACGAG	ctga\|GGAC
Acc marginally increased	29475	wt: 0.6211 / mu: 0.6618 (marginal change - not scored)	wt: CTCCCAGGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAG mu: CTCCCAGGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAG	cccg\|GGCT
Acc marginally increased	29466	wt: 0.2535 / mu: 0.2878 (marginal change - not scored)	wt: CACATTTCTCTCCCAGGTTTACAGTTCCCGGGCTGAGGACG mu: CACATTTCTCTCCCAGGTTTACAGTTCCCAGGCTGAGGACG	ttta\|CAGT
Donor marginally increased	29476	wt: 0.9713 / mu: 0.9921 (marginal change - not scored)	wt: TCCCGGGCTGAGGAC mu: TCCCAGGCTGAGGAC	CCGG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

663

mutated

not conserved

663

Ptroglodytes

all identical

ENSPTRG00000000341

662

Mmulatta

all identical

ENSMMUG00000023052

397

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000037139

664

Ggallus

all identical

ENSGALG00000004155

636

Trubripes

no alignment

ENSTRUG00000007897

n/a

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
603	691	DOMAIN	Fibronectin type-III 3.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

4323 / 4323

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

1441 / 1441

position of stopcodon in wt / mu cDNA

4486 / 4486

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

164 / 164

chromosome

strand

-1

last intron/exon boundary

4223

theoretical NMD boundary in CDS

4009

length of CDS

4323

coding sequence (CDS) position

1987

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

2150

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

29475

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

24409191

original gDNA sequence snippet

CTCCCAGGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAG

altered gDNA sequence snippet

CTCCCAGGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAG

original cDNA sequence snippet

GCACCAGGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAG

altered cDNA sequence snippet

GCACCAGGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAG

wildtype AA sequence

MTLPHSLGGA GDPRPPQAME VHRLEHRQEE EQKEERQHSL RMGSSVRRRT FRSSSEEEHE
FSAADYALAA ALALTASSEL SWEAQLRRQT SAVELEERGQ KRVGFGNDWE RTEIAFLQTH
RLLRQRRDWK TLRRRTEEKV QEAKELRELC YGRGPWFWIP LRSHAVWEHT TVLLTCTVQA
SPPPQVTWYK NDTRIDPRLF RAGKYRITNN YGLLSLEIRR CAIEDSATYT VRVKNAHGQA
SSFAKVLVRT YLGKDAGFDS EIFKRSTFGP SVEFTSVLKP VFAREKEPFS LSCLFSEDVL
DAESIQWFRD GSLLRSSRRR KILYTDRQAS LKVSCTYKED EGLYMVRVPS PFGPREQSTY
VLVRDAEAEN PGAPGSPLNV RCLDVNRDCL ILTWAPPSDT RGNPITAYTI ERCQGESGEW
IACHEAPGGT CRCPIQGLVE GQSYRFRVRA ISRVGSSVPS KASELVVMGD HDAARRKTEI
PFDLGNKITI STDAFEDTVT IPSPPTNVHA SEIREAYVVL AWEEPSPRDR APLTYSLEKS
VIGSGTWEAI SSESPVRSPR FAVLDLEKKK SYVFRVRAMN QYGLSDPSEP SEPIALRGPP
ATLPPPAQVQ AFRDTQTSVS LTWDPVKDPE LLGYYIYSRK VGTSEWQTVN NKPIQGTRFT
VPGLRTGKEY EFCVRSVSEA GVGESSAATE PIRVKQALAT PSAPYGFALL NCGKNEMVIG
WKPPKRRGGG KILGYFLDQH DSEELDWHAV NQQPIPTRVC KVSDLHEGHF YEFRARAANW
AGVGELSAPS SLFECKEWTM PQPGPPYDVR ASEVRATSLV LQWEPPLYMG AGPVTGYHVS
FQEEGSEQWK PVTPGPISGT HLRVSDLQPG KSYVFQVQAM NSAGLGQPSM PTDPVLLEDK
PGAHEIEVGV DEEGFIYLAF EAPEAPDSSE FQWSKDYKGP LDPQRVKIED KVNKSKVILK
EPGLEDLGTY SVIVTDADED ISASHTLTEE ELEKLKKLSH EIRNPVIKLI SGWNIDILER
GEVRLWLEVE KLSPAAELHL IFNNKEIFSS PNRKINFDRE KGLVEVIIQN LSEEDKGSYT
AQLQDGKAKN QITLTLVDDD FDKLLRKADA KRRDWKRKQG TGPYFERPLQ WKVTEDCQVQ
LTCKVTNTKK ETRFQWFFQR AEMPDGQYDP ETGTGLLCIE ELSKKDKGIY RAMVSDDRGE
DDTILDLTGD ALDAIFTELG RIGALSATPL KIQGTEEGIR IFSKVKYYNV EYMKTTWFHK
DKRLESGDRI RTGTTLDEIW LHILDPKDSD KGKYTLEIAA GKEVRQLSTD LSGQAFEDAM
AEHQRLKTLA IIEKNRAKVV RGLPDVATIM EDKTLCLTCI VSGDPTPEIS WLKNDQPVTF
LDRYRMEVRG TEVTITIEKV NSEDSGRYGV FVKNKYGSET GQVTISVFKH GDEPKELKSM
*

mutated AA sequence

MTLPHSLGGA GDPRPPQAME VHRLEHRQEE EQKEERQHSL RMGSSVRRRT FRSSSEEEHE
FSAADYALAA ALALTASSEL SWEAQLRRQT SAVELEERGQ KRVGFGNDWE RTEIAFLQTH
RLLRQRRDWK TLRRRTEEKV QEAKELRELC YGRGPWFWIP LRSHAVWEHT TVLLTCTVQA
SPPPQVTWYK NDTRIDPRLF RAGKYRITNN YGLLSLEIRR CAIEDSATYT VRVKNAHGQA
SSFAKVLVRT YLGKDAGFDS EIFKRSTFGP SVEFTSVLKP VFAREKEPFS LSCLFSEDVL
DAESIQWFRD GSLLRSSRRR KILYTDRQAS LKVSCTYKED EGLYMVRVPS PFGPREQSTY
VLVRDAEAEN PGAPGSPLNV RCLDVNRDCL ILTWAPPSDT RGNPITAYTI ERCQGESGEW
IACHEAPGGT CRCPIQGLVE GQSYRFRVRA ISRVGSSVPS KASELVVMGD HDAARRKTEI
PFDLGNKITI STDAFEDTVT IPSPPTNVHA SEIREAYVVL AWEEPSPRDR APLTYSLEKS
VIGSGTWEAI SSESPVRSPR FAVLDLEKKK SYVFRVRAMN QYGLSDPSEP SEPIALRGPP
ATLPPPAQVQ AFRDTQTSVS LTWDPVKDPE LLGYYIYSRK VGTSEWQTVN NKPIQGTRFT
VPRLRTGKEY EFCVRSVSEA GVGESSAATE PIRVKQALAT PSAPYGFALL NCGKNEMVIG
WKPPKRRGGG KILGYFLDQH DSEELDWHAV NQQPIPTRVC KVSDLHEGHF YEFRARAANW
AGVGELSAPS SLFECKEWTM PQPGPPYDVR ASEVRATSLV LQWEPPLYMG AGPVTGYHVS
FQEEGSEQWK PVTPGPISGT HLRVSDLQPG KSYVFQVQAM NSAGLGQPSM PTDPVLLEDK
PGAHEIEVGV DEEGFIYLAF EAPEAPDSSE FQWSKDYKGP LDPQRVKIED KVNKSKVILK
EPGLEDLGTY SVIVTDADED ISASHTLTEE ELEKLKKLSH EIRNPVIKLI SGWNIDILER
GEVRLWLEVE KLSPAAELHL IFNNKEIFSS PNRKINFDRE KGLVEVIIQN LSEEDKGSYT
AQLQDGKAKN QITLTLVDDD FDKLLRKADA KRRDWKRKQG TGPYFERPLQ WKVTEDCQVQ
LTCKVTNTKK ETRFQWFFQR AEMPDGQYDP ETGTGLLCIE ELSKKDKGIY RAMVSDDRGE
DDTILDLTGD ALDAIFTELG RIGALSATPL KIQGTEEGIR IFSKVKYYNV EYMKTTWFHK
DKRLESGDRI RTGTTLDEIW LHILDPKDSD KGKYTLEIAA GKEVRQLSTD LSGQAFEDAM
AEHQRLKTLA IIEKNRAKVV RGLPDVATIM EDKTLCLTCI VSGDPTPEIS WLKNDQPVTF
LDRYRMEVRG TEVTITIEKV NSEDSGRYGV FVKNKYGSET GQVTISVFKH GDEPKELKSM
*

speed

0.46 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.000455524580179693 (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)

chr1:24409191C>TN/A show variant in all transcripts IGV

HGNC symbol

MYOM3

Ensembl transcript ID

ENST00000329601

Genbank transcript ID

N/A

UniProt peptide

Q5VTT5

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1984G>A
cDNA.2147G>A
g.29475G>A

AA changes

G662R Score: 125 explain score(s)

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

662

frameshift

known variant

Reference ID: rs4320729

database	homozygous (T/T)	heterozygous	allele carriers
1000G	248	790	1038
ExAC	8893	14981	23874

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	2.72	1
	4.205	0.996
(flanking)	-2.515	0.115

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	29481	wt: 0.2513 / mu: 0.2524 (marginal change - not scored)	wt: GGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAGTACGAG mu: GGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAGTACGAG	ctga\|GGAC
Acc marginally increased	29475	wt: 0.6211 / mu: 0.6618 (marginal change - not scored)	wt: CTCCCAGGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAG mu: CTCCCAGGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAG	cccg\|GGCT
Acc marginally increased	29466	wt: 0.2535 / mu: 0.2878 (marginal change - not scored)	wt: CACATTTCTCTCCCAGGTTTACAGTTCCCGGGCTGAGGACG mu: CACATTTCTCTCCCAGGTTTACAGTTCCCAGGCTGAGGACG	ttta\|CAGT
Donor marginally increased	29476	wt: 0.9713 / mu: 0.9921 (marginal change - not scored)	wt: TCCCGGGCTGAGGAC mu: TCCCAGGCTGAGGAC	CCGG\|gctg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

662

mutated

not conserved

662

Ptroglodytes

all identical

ENSPTRG00000000341

662

Mmulatta

all identical

ENSMMUG00000023052

397

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000037139

664

Ggallus

all identical

ENSGALG00000004155

636

Trubripes

no alignment

ENSTRUG00000007897

n/a

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
603	691	DOMAIN	Fibronectin type-III 3.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

3645 / 3645

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

1215 / 1215

position of stopcodon in wt / mu cDNA

3808 / 3808

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

164 / 164

chromosome

strand

-1

last intron/exon boundary

3593

theoretical NMD boundary in CDS

3379

length of CDS

3645

coding sequence (CDS) position

1984

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

2147

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

29475

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

24409191

original gDNA sequence snippet

CTCCCAGGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAG

altered gDNA sequence snippet

CTCCCAGGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAG

original cDNA sequence snippet

GCACCAGGTTTACAGTTCCCGGGCTGAGGACGGGGAAGGAG

altered cDNA sequence snippet

GCACCAGGTTTACAGTTCCCAGGCTGAGGACGGGGAAGGAG

wildtype AA sequence

MTLPHSLGGA GDPRPPQAME VHRLEHRQEE EQKEERQHSL RMGSSVRRRT FRSSEEEHEF
SAADYALAAA LALTASSELS WEAQLRRQTS AVELEERGQK RVGFGNDWER TEIAFLQTHR
LLRQRRDWKT LRRRTEEKVQ EAKELRELCY GRGPWFWIPL RSHAVWEHTT VLLTCTVQAS
PPPQVTWYKN DTRIDPRLFR AGKYRITNNY GLLSLEIRRC AIEDSATYTV RVKNAHGQAS
SFAKVLVRTY LGKDAGFDSE IFKRSTFGPS VEFTSVLKPV FAREKEPFSL SCLFSEDVLD
AESIQWFRDG SLLRSSRRRK ILYTDRQASL KVSCTYKEDE GLYMVRVPSP FGPREQSTYV
LVRDAEAENP GAPGSPLNVR CLDVNRDCLI LTWAPPSDTR GNPITAYTIE RCQGESGEWI
ACHEAPGGTC RCPIQGLVEG QSYRFRVRAI SRVGSSVPSK ASELVVMGDH DAARRKTEIP
FDLGNKITIS TDAFEDTVTI PSPPTNVHAS EIREAYVVLA WEEPSPRDRA PLTYSLEKSV
IGSGTWEAIS SESPVRSPRF AVLDLEKKKS YVFRVRAMNQ YGLSDPSEPS EPIALRGPPA
TLPPPAQVQA FRDTQTSVSL TWDPVKDPEL LGYYIYSRKV GTSEWQTVNN KPIQGTRFTV
PGLRTGKEYE FCVRSVSEAG VGESSAATEP IRVKQALATP SAPYGFALLN CGKNEMVIGW
KPPKRRGGGK ILGYFLDQHD SEELDWHAVN QQPIPTRVCK VSDLHEGHFY EFRARAANWA
GVGELSAPSS LFECKEWTMP QPGPPYDVRA SEVRATSLVL QWEPPLYMGA GPVTGYHVSF
QEEGSEQWKP VTPGPISGTH LRVSDLQPGK SYVFQVQAMN SAGLGQPSMP TDPVLLEDKP
GAHEIEVGVD EEGFIYLAFE APEAPDSSEF QWSKDYKGPL DPQRVKIEDK VNKSKVILKE
PGLEDLGTYS VIVTDADEDI SASHTLTEEE LEKLKKLSHE IRNPVIKLIS GWNIDILERG
EVRLWLEVEK LSPAAELHLI FNNKEIFSSP NRKINFDREK GLVEVIIQNL SEEDKGSYTA
QLQDGKAKNQ ITLTLVDDDF DKLLRKADAK RRDWKRKQGP YFERPLQWKV TEDCQVQLTC
KASVTNTKKE TRFQWFFQRA EMPDGQYDPE TGTGLLCIEE ASVAPASGLT FSFGCKPGRA
KSSGLGVRAG PRLG*

mutated AA sequence

MTLPHSLGGA GDPRPPQAME VHRLEHRQEE EQKEERQHSL RMGSSVRRRT FRSSEEEHEF
SAADYALAAA LALTASSELS WEAQLRRQTS AVELEERGQK RVGFGNDWER TEIAFLQTHR
LLRQRRDWKT LRRRTEEKVQ EAKELRELCY GRGPWFWIPL RSHAVWEHTT VLLTCTVQAS
PPPQVTWYKN DTRIDPRLFR AGKYRITNNY GLLSLEIRRC AIEDSATYTV RVKNAHGQAS
SFAKVLVRTY LGKDAGFDSE IFKRSTFGPS VEFTSVLKPV FAREKEPFSL SCLFSEDVLD
AESIQWFRDG SLLRSSRRRK ILYTDRQASL KVSCTYKEDE GLYMVRVPSP FGPREQSTYV
LVRDAEAENP GAPGSPLNVR CLDVNRDCLI LTWAPPSDTR GNPITAYTIE RCQGESGEWI
ACHEAPGGTC RCPIQGLVEG QSYRFRVRAI SRVGSSVPSK ASELVVMGDH DAARRKTEIP
FDLGNKITIS TDAFEDTVTI PSPPTNVHAS EIREAYVVLA WEEPSPRDRA PLTYSLEKSV
IGSGTWEAIS SESPVRSPRF AVLDLEKKKS YVFRVRAMNQ YGLSDPSEPS EPIALRGPPA
TLPPPAQVQA FRDTQTSVSL TWDPVKDPEL LGYYIYSRKV GTSEWQTVNN KPIQGTRFTV
PRLRTGKEYE FCVRSVSEAG VGESSAATEP IRVKQALATP SAPYGFALLN CGKNEMVIGW
KPPKRRGGGK ILGYFLDQHD SEELDWHAVN QQPIPTRVCK VSDLHEGHFY EFRARAANWA
GVGELSAPSS LFECKEWTMP QPGPPYDVRA SEVRATSLVL QWEPPLYMGA GPVTGYHVSF
QEEGSEQWKP VTPGPISGTH LRVSDLQPGK SYVFQVQAMN SAGLGQPSMP TDPVLLEDKP
GAHEIEVGVD EEGFIYLAFE APEAPDSSEF QWSKDYKGPL DPQRVKIEDK VNKSKVILKE
PGLEDLGTYS VIVTDADEDI SASHTLTEEE LEKLKKLSHE IRNPVIKLIS GWNIDILERG
EVRLWLEVEK LSPAAELHLI FNNKEIFSSP NRKINFDREK GLVEVIIQNL SEEDKGSYTA
QLQDGKAKNQ ITLTLVDDDF DKLLRKADAK RRDWKRKQGP YFERPLQWKV TEDCQVQLTC
KASVTNTKKE TRFQWFFQRA EMPDGQYDPE TGTGLLCIEE ASVAPASGLT FSFGCKPGRA
KSSGLGVRAG PRLG*

speed

0.33 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems