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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000354570
Querying Taster for transcript #2: ENST00000454590
Querying Taster for transcript #3: ENST00000438100
Querying Taster for transcript #4: ENST00000544465
Querying Taster for transcript #5: ENST00000432797
MT speed 0 s - this script 4.791825 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
MAP7	polymorphism_automatic	0.978529171003971	simple_aae		affected		R412W	single base exchange	rs2076190		show file
MAP7	polymorphism_automatic	0.983771805755106	simple_aae		affected		R543W	single base exchange	rs2076190		show file
MAP7	polymorphism_automatic	0.983771805755106	simple_aae		affected		R558W	single base exchange	rs2076190		show file
MAP7	polymorphism_automatic	0.983771805755106	simple_aae		affected		R580W	single base exchange	rs2076190		show file
MAP7	polymorphism_automatic	0.983771805755106	simple_aae		affected		R543W	single base exchange	rs2076190		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0214708289960294 (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)

chr6:136682172G>AN/A show variant in all transcripts IGV

HGNC symbol

MAP7

Ensembl transcript ID

ENST00000432797

Genbank transcript ID

NM_001198618

UniProt peptide

Q14244

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1234C>T
cDNA.1850C>T
g.189475C>T

AA changes

R412W Score: 101 explain score(s)

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

412

frameshift

known variant

Reference ID: rs2076190

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1511	842	2353
ExAC	25335	-17903	7432

regulatory features

Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Znf263, Transcription Factor, Znf263 TF binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.922	0.998
	0.858	0.997
(flanking)	0.264	0.994

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 gained	189468	0.62	mu: GCGCTGCGCGAGTGG	GCTG\|cgcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

412

mutated

not conserved

412

Ptroglodytes

all identical

ENSPTRG00000018636

579

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008185

n/a

Mmusculus

all identical

ENSMUSG00000019996

549

Ggallus

all identical

ENSGALG00000013900

521

Trubripes

all identical

ENSTRUG00000015983

547

Drerio

all identical

ENSDARG00000054844

570

Dmelanogaster

not conserved

FBgn0035500

999

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
316	451	COMPBIAS	Pro-rich.	lost
477	612	COILED	Potential.	might get lost (downstream of altered splice site)
672	672	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
673	673	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1812 / 1812

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

604 / 604

position of stopcodon in wt / mu cDNA

2428 / 2428

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

617 / 617

chromosome

strand

-1

last intron/exon boundary

2418

theoretical NMD boundary in CDS

1751

length of CDS

1812

coding sequence (CDS) position

1234

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

1850

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

189475

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

136682172

original gDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC

altered gDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC

original cDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC

altered cDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC

wildtype AA sequence

MERSQKPKQK HNRWSWGGSL HGSPSIHSAD PDRRSVSTMN LSKYVDPVIS KRLSSSSATL
LNSPDRARRL QLSPWESSVV NRLLTPTHSF LARSKSTAAL SGEAASCSPI IMPYKAAHSR
NSMDRPKLFV TPPEGSSRRR IIHGTASYKK ERERENVLFL TSGTRRAVSP SNPKARQPAR
SRLWLPSKSL PHLPGTPRPT SSLPPGSVKA APAQVRPPSP GNIRPVKREV KVEPEKKDPE
KEPQKVANEP SLKGRAPLVK VEEATVEERT PAEPEVGPAA PAMAPAPASA PAPASAPAPA
PVPTPAMVSA PSSTVNASAS VKTSAGTTDP EEATRLLAEK RRLAREQREK EERERREQEE
LERQKREELA QRVAEERTTR REEESRRLEA EQAREKEEQL QRQAEERALR EREEAERAQR
QKEEEARVRE EAERVRQERE KHFQREEQER LERKKRLEEI MKRTRRTEAT DKKTSDQRNG
DIAKGALTGG TEVSALPCTT NAPGNGKPVG SPHVVTSHQS KVTVESTPDL EKQPNENGVS
VQNENFEEII NLPIGSKPSR LDVTNSESPE IPLNPILAFD DEGTLGPLPQ VDGVQTQQTA
EVI*

mutated AA sequence

MERSQKPKQK HNRWSWGGSL HGSPSIHSAD PDRRSVSTMN LSKYVDPVIS KRLSSSSATL
LNSPDRARRL QLSPWESSVV NRLLTPTHSF LARSKSTAAL SGEAASCSPI IMPYKAAHSR
NSMDRPKLFV TPPEGSSRRR IIHGTASYKK ERERENVLFL TSGTRRAVSP SNPKARQPAR
SRLWLPSKSL PHLPGTPRPT SSLPPGSVKA APAQVRPPSP GNIRPVKREV KVEPEKKDPE
KEPQKVANEP SLKGRAPLVK VEEATVEERT PAEPEVGPAA PAMAPAPASA PAPASAPAPA
PVPTPAMVSA PSSTVNASAS VKTSAGTTDP EEATRLLAEK RRLAREQREK EERERREQEE
LERQKREELA QRVAEERTTR REEESRRLEA EQAREKEEQL QRQAEERALR EWEEAERAQR
QKEEEARVRE EAERVRQERE KHFQREEQER LERKKRLEEI MKRTRRTEAT DKKTSDQRNG
DIAKGALTGG TEVSALPCTT NAPGNGKPVG SPHVVTSHQS KVTVESTPDL EKQPNENGVS
VQNENFEEII NLPIGSKPSR LDVTNSESPE IPLNPILAFD DEGTLGPLPQ VDGVQTQQTA
EVI*

speed

1.33 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: 0.0162281942448937 (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)

chr6:136682172G>AN/A show variant in all transcripts IGV

HGNC symbol

MAP7

Ensembl transcript ID

ENST00000438100

Genbank transcript ID

NM_001198611

UniProt peptide

Q14244

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1627C>T
cDNA.1646C>T
g.189475C>T

AA changes

R543W Score: 101 explain score(s)

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

543

frameshift

known variant

Reference ID: rs2076190

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1511	842	2353
ExAC	25335	-17903	7432

regulatory features

Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Znf263, Transcription Factor, Znf263 TF binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.922	0.998
	0.858	0.997
(flanking)	0.264	0.994

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 gained	189468	0.62	mu: GCGCTGCGCGAGTGG	GCTG\|cgcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

543

mutated

not conserved

543

Ptroglodytes

all identical

ENSPTRG00000018636

579

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008185

n/a

Mmusculus

all identical

ENSMUSG00000019996

548

Ggallus

all identical

ENSGALG00000013900

521

Trubripes

all identical

ENSTRUG00000015983

546

Drerio

all identical

ENSDARG00000054844

570

Dmelanogaster

not conserved

FBgn0035500

999

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
477	612	COILED	Potential.	lost
672	672	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
673	673	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2205 / 2205

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

735 / 735

position of stopcodon in wt / mu cDNA

2224 / 2224

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

20 / 20

chromosome

strand

-1

last intron/exon boundary

2214

theoretical NMD boundary in CDS

2144

length of CDS

2205

coding sequence (CDS) position

1627

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

1646

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

189475

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

136682172

original gDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC

altered gDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC

original cDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC

altered cDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC

wildtype AA sequence

MPGSATALRH ERLKKTNARP IPLGLFTINE EDEQQKNGNS RRPKAPDSYK VQDKKNASSR
PASAISGQNN NHSGNKPDPP PVLRVDDRQR LARERREERE KQLAAREIVW LEREERARQH
YEKHLEERKK RLEEQRQKEE RRRAAVEEKR RQRLEEDKER HEAVVRRTME RSQKPKQKHN
RWSWGGSLHG SPSIHSAARR LQLSPWESSV VNRLLTPTHS FLARSKSTAA LSGEAASCSP
IIMPYKAAHS RNSMDRPKLF VTPPEGSSRR RIIHGTASYK KERERENVLF LTSGTRRAVS
PSNPKARQPA RSRLWLPSKS LPHLPGTPRP TSSLPPGSVK AAPAQVRPPS PGNIRPVKRE
VKVEPEKKDP EKEPQKVANE PSLKGRAPLV KVEEATVEER TPAEPEVGPA APAMAPAPAS
APAPASAPAP APVPTPAMVS APSSTVNASA SVKTSAGTTD PEEATRLLAE KRRLAREQRE
KEERERREQE ELERQKREEL AQRVAEERTT RREEESRRLE AEQAREKEEQ LQRQAEERAL
REREEAERAQ RQKEEEARVR EEAERVRQER EKHFQREEQE RLERKKRLEE IMKRTRRTEA
TDKKTSDQRN GDIAKGALTG GTEVSALPCT TNAPGNGKPV GSPHVVTSHQ SKVTVESTPD
LEKQPNENGV SVQNENFEEI INLPIGSKPS RLDVTNSESP EIPLNPILAF DDEGTLGPLP
QVDGVQTQQT AEVI*

mutated AA sequence

MPGSATALRH ERLKKTNARP IPLGLFTINE EDEQQKNGNS RRPKAPDSYK VQDKKNASSR
PASAISGQNN NHSGNKPDPP PVLRVDDRQR LARERREERE KQLAAREIVW LEREERARQH
YEKHLEERKK RLEEQRQKEE RRRAAVEEKR RQRLEEDKER HEAVVRRTME RSQKPKQKHN
RWSWGGSLHG SPSIHSAARR LQLSPWESSV VNRLLTPTHS FLARSKSTAA LSGEAASCSP
IIMPYKAAHS RNSMDRPKLF VTPPEGSSRR RIIHGTASYK KERERENVLF LTSGTRRAVS
PSNPKARQPA RSRLWLPSKS LPHLPGTPRP TSSLPPGSVK AAPAQVRPPS PGNIRPVKRE
VKVEPEKKDP EKEPQKVANE PSLKGRAPLV KVEEATVEER TPAEPEVGPA APAMAPAPAS
APAPASAPAP APVPTPAMVS APSSTVNASA SVKTSAGTTD PEEATRLLAE KRRLAREQRE
KEERERREQE ELERQKREEL AQRVAEERTT RREEESRRLE AEQAREKEEQ LQRQAEERAL
REWEEAERAQ RQKEEEARVR EEAERVRQER EKHFQREEQE RLERKKRLEE IMKRTRRTEA
TDKKTSDQRN GDIAKGALTG GTEVSALPCT TNAPGNGKPV GSPHVVTSHQ SKVTVESTPD
LEKQPNENGV SVQNENFEEI INLPIGSKPS RLDVTNSESP EIPLNPILAF DDEGTLGPLP
QVDGVQTQQT AEVI*

speed

0.63 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0162281942448937 (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)

chr6:136682172G>AN/A show variant in all transcripts IGV

HGNC symbol

MAP7

Ensembl transcript ID

ENST00000354570

Genbank transcript ID

NM_003980

UniProt peptide

Q14244

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1672C>T
cDNA.1772C>T
g.189475C>T

AA changes

R558W Score: 101 explain score(s)

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

558

frameshift

known variant

Reference ID: rs2076190

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1511	842	2353
ExAC	25335	-17903	7432

regulatory features

Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Znf263, Transcription Factor, Znf263 TF binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.922	0.998
	0.858	0.997
(flanking)	0.264	0.994

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 gained	189468	0.62	mu: GCGCTGCGCGAGTGG	GCTG\|cgcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

558

mutated

not conserved

558

Ptroglodytes

all identical

ENSPTRG00000018636

578

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008185

n/a

Mmusculus

all identical

ENSMUSG00000019996

548

Ggallus

all identical

ENSGALG00000013900

521

Trubripes

all identical

ENSTRUG00000015983

546

Drerio

all identical

ENSDARG00000054844

568

Dmelanogaster

not conserved

FBgn0035500

999

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
477	612	COILED	Potential.	lost
672	672	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
673	673	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2250 / 2250

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

750 / 750

position of stopcodon in wt / mu cDNA

2350 / 2350

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

101 / 101

chromosome

strand

-1

last intron/exon boundary

2340

theoretical NMD boundary in CDS

2189

length of CDS

2250

coding sequence (CDS) position

1672

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

1772

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

189475

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

136682172

original gDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC

altered gDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC

original cDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC

altered cDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC

wildtype AA sequence

MAELGAGGDG HRGGDGAVRS ETAPDSYKVQ DKKNASSRPA SAISGQNNNH SGNKPDPPPV
LRVDDRQRLA RERREEREKQ LAAREIVWLE REERARQHYE KHLEERKKRL EEQRQKEERR
RAAVEEKRRQ RLEEDKERHE AVVRRTMERS QKPKQKHNRW SWGGSLHGSP SIHSADPDRR
SVSTMNLSKY VDPVISKRLS SSSATLLNSP DRARRLQLSP WESSVVNRLL TPTHSFLARS
KSTAALSGEA ASCSPIIMPY KAAHSRNSMD RPKLFVTPPE GSSRRRIIHG TASYKKERER
ENVLFLTSGT RRAVSPSNPK ARQPARSRLW LPSKSLPHLP GTPRPTSSLP PGSVKAAPAQ
VRPPSPGNIR PVKREVKVEP EKKDPEKEPQ KVANEPSLKG RAPLVKVEEA TVEERTPAEP
EVGPAAPAMA PAPASAPAPA SAPAPAPVPT PAMVSAPSST VNASASVKTS AGTTDPEEAT
RLLAEKRRLA REQREKEERE RREQEELERQ KREELAQRVA EERTTRREEE SRRLEAEQAR
EKEEQLQRQA EERALREREE AERAQRQKEE EARVREEAER VRQEREKHFQ REEQERLERK
KRLEEIMKRT RRTEATDKKT SDQRNGDIAK GALTGGTEVS ALPCTTNAPG NGKPVGSPHV
VTSHQSKVTV ESTPDLEKQP NENGVSVQNE NFEEIINLPI GSKPSRLDVT NSESPEIPLN
PILAFDDEGT LGPLPQVDGV QTQQTAEVI*

mutated AA sequence

MAELGAGGDG HRGGDGAVRS ETAPDSYKVQ DKKNASSRPA SAISGQNNNH SGNKPDPPPV
LRVDDRQRLA RERREEREKQ LAAREIVWLE REERARQHYE KHLEERKKRL EEQRQKEERR
RAAVEEKRRQ RLEEDKERHE AVVRRTMERS QKPKQKHNRW SWGGSLHGSP SIHSADPDRR
SVSTMNLSKY VDPVISKRLS SSSATLLNSP DRARRLQLSP WESSVVNRLL TPTHSFLARS
KSTAALSGEA ASCSPIIMPY KAAHSRNSMD RPKLFVTPPE GSSRRRIIHG TASYKKERER
ENVLFLTSGT RRAVSPSNPK ARQPARSRLW LPSKSLPHLP GTPRPTSSLP PGSVKAAPAQ
VRPPSPGNIR PVKREVKVEP EKKDPEKEPQ KVANEPSLKG RAPLVKVEEA TVEERTPAEP
EVGPAAPAMA PAPASAPAPA SAPAPAPVPT PAMVSAPSST VNASASVKTS AGTTDPEEAT
RLLAEKRRLA REQREKEERE RREQEELERQ KREELAQRVA EERTTRREEE SRRLEAEQAR
EKEEQLQRQA EERALREWEE AERAQRQKEE EARVREEAER VRQEREKHFQ REEQERLERK
KRLEEIMKRT RRTEATDKKT SDQRNGDIAK GALTGGTEVS ALPCTTNAPG NGKPVGSPHV
VTSHQSKVTV ESTPDLEKQP NENGVSVQNE NFEEIINLPI GSKPSRLDVT NSESPEIPLN
PILAFDDEGT LGPLPQVDGV QTQQTAEVI*

speed

0.57 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0162281942448937 (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)

chr6:136682172G>AN/A show variant in all transcripts IGV

HGNC symbol

MAP7

Ensembl transcript ID

ENST00000454590

Genbank transcript ID

NM_001198608

UniProt peptide

Q14244

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1738C>T
cDNA.1856C>T
g.189475C>T

AA changes

R580W Score: 101 explain score(s)

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

580

frameshift

known variant

Reference ID: rs2076190

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1511	842	2353
ExAC	25335	-17903	7432

regulatory features

Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Znf263, Transcription Factor, Znf263 TF binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.922	0.998
	0.858	0.997
(flanking)	0.264	0.994

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 gained	189468	0.62	mu: GCGCTGCGCGAGTGG	GCTG\|cgcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

580

mutated

not conserved

580

Ptroglodytes

all identical

ENSPTRG00000018636

579

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008185

n/a

Mmusculus

all identical

ENSMUSG00000019996

548

Ggallus

all identical

ENSGALG00000013900

521

Trubripes

all identical

ENSTRUG00000015983

546

Drerio

all identical

ENSDARG00000054844

570

Dmelanogaster

not conserved

FBgn0035500

999

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
477	612	COILED	Potential.	lost
672	672	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
673	673	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2316 / 2316

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

772 / 772

position of stopcodon in wt / mu cDNA

2434 / 2434

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

119 / 119

chromosome

strand

-1

last intron/exon boundary

2424

theoretical NMD boundary in CDS

2255

length of CDS

2316

coding sequence (CDS) position

1738

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

1856

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

189475

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

136682172

original gDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC

altered gDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC

original cDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC

altered cDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC

wildtype AA sequence

MPGSATALRH ERLKKTNARP IPLGLFTINE EDEQQKNGNS RRPKAPDSYK VQDKKNASSR
PASAISGQNN NHSGNKPDPP PVLRVDDRQR LARERREERE KQLAAREIVW LEREERARQH
YEKHLEERKK RLEEQRQKEE RRRAAVEEKR RQRLEEDKER HEAVVRRTME RSQKPKQKHN
RWSWGGSLHG SPSIHSADPD RRSVSTMNLS KYVDPVISKR LSSSSATLLN SPDRARRLQL
SPWESSVVNR LLTPTHSFLA RSKSTAALSG EAASCSPIIM PYKAAHSRNS MDRPKLFVTP
PEGSSRRRII HGTASYKKER ERENVLFLTS GTRRAVSPSN PKARQPARSR LWLPSKSLPH
LPGTPRPTSS LPPGSVKAAP AQVRPPSPGN IRPVKREVKV EPEKKDPEKE PQKVANEPSL
KGRAPLVKVE EATVEERTPA EPEVGPAAPA MAPAPASAPA PASAPAPAPV PTPAMVSAPS
STVNASASVK TSAGTTDPEE ATRLLAEKRR LAREQREKEE RERREQEELE RQKREELAQR
VAEERTTRRE EESRRLEAEQ AREKEEQLQR QAEERALRER EEAERAQRQK EEEARVREEA
ERVRQEREKH FQREEQERLE RKKRLEEIMK RTRRTEATDK KTSDQRNGDI AKGALTGGTE
VSALPCTTNA PGNGKPVGSP HVVTSHQSKV TVESTPDLEK QPNENGVSVQ NENFEEIINL
PIGSKPSRLD VTNSESPEIP LNPILAFDDE GTLGPLPQVD GVQTQQTAEV I*

mutated AA sequence

MPGSATALRH ERLKKTNARP IPLGLFTINE EDEQQKNGNS RRPKAPDSYK VQDKKNASSR
PASAISGQNN NHSGNKPDPP PVLRVDDRQR LARERREERE KQLAAREIVW LEREERARQH
YEKHLEERKK RLEEQRQKEE RRRAAVEEKR RQRLEEDKER HEAVVRRTME RSQKPKQKHN
RWSWGGSLHG SPSIHSADPD RRSVSTMNLS KYVDPVISKR LSSSSATLLN SPDRARRLQL
SPWESSVVNR LLTPTHSFLA RSKSTAALSG EAASCSPIIM PYKAAHSRNS MDRPKLFVTP
PEGSSRRRII HGTASYKKER ERENVLFLTS GTRRAVSPSN PKARQPARSR LWLPSKSLPH
LPGTPRPTSS LPPGSVKAAP AQVRPPSPGN IRPVKREVKV EPEKKDPEKE PQKVANEPSL
KGRAPLVKVE EATVEERTPA EPEVGPAAPA MAPAPASAPA PASAPAPAPV PTPAMVSAPS
STVNASASVK TSAGTTDPEE ATRLLAEKRR LAREQREKEE RERREQEELE RQKREELAQR
VAEERTTRRE EESRRLEAEQ AREKEEQLQR QAEERALREW EEAERAQRQK EEEARVREEA
ERVRQEREKH FQREEQERLE RKKRLEEIMK RTRRTEATDK KTSDQRNGDI AKGALTGGTE
VSALPCTTNA PGNGKPVGSP HVVTSHQSKV TVESTPDLEK QPNENGVSVQ NENFEEIINL
PIGSKPSRLD VTNSESPEIP LNPILAFDDE GTLGPLPQVD GVQTQQTAEV I*

speed

0.67 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.0162281942448937 (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)

chr6:136682172G>AN/A show variant in all transcripts IGV

HGNC symbol

MAP7

Ensembl transcript ID

ENST00000544465

Genbank transcript ID

NM_001198615

UniProt peptide

Q14244

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1627C>T
cDNA.1720C>T
g.189475C>T

AA changes

R543W Score: 101 explain score(s)

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

543

frameshift

known variant

Reference ID: rs2076190

database	homozygous (A/A)	heterozygous	allele carriers
1000G	1511	842	2353
ExAC	25335	-17903	7432

regulatory features

Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Znf263, Transcription Factor, Znf263 TF binding

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.922	0.998
	0.858	0.997
(flanking)	0.264	0.994

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 gained	189468	0.62	mu: GCGCTGCGCGAGTGG	GCTG\|cgcg

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

543

mutated

not conserved

543

Ptroglodytes

all identical

ENSPTRG00000018636

579

Mmulatta

no homologue

Fcatus

no alignment

ENSFCAG00000008185

n/a

Mmusculus

all identical

ENSMUSG00000019996

548

Ggallus

all identical

ENSGALG00000013900

521

Trubripes

all identical

ENSTRUG00000015983

546

Drerio

all identical

ENSDARG00000054844

570

Dmelanogaster

not conserved

FBgn0035500

999

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
477	612	COILED	Potential.	lost
672	672	MOD_RES	Phosphoserine.	might get lost (downstream of altered splice site)
673	673	MOD_RES	Phosphothreonine.	might get lost (downstream of altered splice site)

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2205 / 2205

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

735 / 735

position of stopcodon in wt / mu cDNA

2298 / 2298

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

94 / 94

chromosome

strand

-1

last intron/exon boundary

2288

theoretical NMD boundary in CDS

2144

length of CDS

2205

coding sequence (CDS) position

1627

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

1720

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

189475

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

136682172

original gDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC

altered gDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC

original cDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGCGGGAGGAGGCAGAGCGCGCC

altered cDNA sequence snippet

AGGAGCGGGCGCTGCGCGAGTGGGAGGAGGCAGAGCGCGCC

wildtype AA sequence

MEDTKLYSPD SYKVQDKKNA SSRPASAISG QNNNHSGNKP DPPPVLRVDD RQRLARERRE
EREKQLAARE IVWLEREERA RQHYEKHLEE RKKRLEEQRQ KEERRRAAVE EKRRQRLEED
KERHEAVVRR TMERSQKPKQ KHNRWSWGGS LHGSPSIHSA DPDRRSVSTM NLSKYVDPVI
SKRLSSSSAT LLNSPDRARR LQLSPWESSV VNRLLTPTHS FLARSKSTAA LSGEAASCSP
IIMPYKAAHS RNSMDRPKLF VTPPEGSSRR RIIHGTASYK KERERENVLF LTSGTRRAVS
PSNPKARQPA RSRLWLPSKS LPHLPGTPRP TSSLPPGSVK AAPAQVRPPS PGNIRPVKRE
VKVEPEKKDP EKEPQKVANE PSLKGRAPLV KVEEATVEER TPAEPEVGPA APAMAPAPAS
APAPASAPAP APVPTPAMVS APSSTVNASA SVKTSAGTTD PEEATRLLAE KRRLAREQRE
KEERERREQE ELERQKREEL AQRVAEERTT RREEESRRLE AEQAREKEEQ LQRQAEERAL
REREEAERAQ RQKEEEARVR EEAERVRQER EKHFQREEQE RLERKKRLEE IMKRTRRTEA
TDKKTSDQRN GDIAKGALTG GTEVSALPCT TNAPGNGKPV GSPHVVTSHQ SKVTVESTPD
LEKQPNENGV SVQNENFEEI INLPIGSKPS RLDVTNSESP EIPLNPILAF DDEGTLGPLP
QVDGVQTQQT AEVI*

mutated AA sequence

MEDTKLYSPD SYKVQDKKNA SSRPASAISG QNNNHSGNKP DPPPVLRVDD RQRLARERRE
EREKQLAARE IVWLEREERA RQHYEKHLEE RKKRLEEQRQ KEERRRAAVE EKRRQRLEED
KERHEAVVRR TMERSQKPKQ KHNRWSWGGS LHGSPSIHSA DPDRRSVSTM NLSKYVDPVI
SKRLSSSSAT LLNSPDRARR LQLSPWESSV VNRLLTPTHS FLARSKSTAA LSGEAASCSP
IIMPYKAAHS RNSMDRPKLF VTPPEGSSRR RIIHGTASYK KERERENVLF LTSGTRRAVS
PSNPKARQPA RSRLWLPSKS LPHLPGTPRP TSSLPPGSVK AAPAQVRPPS PGNIRPVKRE
VKVEPEKKDP EKEPQKVANE PSLKGRAPLV KVEEATVEER TPAEPEVGPA APAMAPAPAS
APAPASAPAP APVPTPAMVS APSSTVNASA SVKTSAGTTD PEEATRLLAE KRRLAREQRE
KEERERREQE ELERQKREEL AQRVAEERTT RREEESRRLE AEQAREKEEQ LQRQAEERAL
REWEEAERAQ RQKEEEARVR EEAERVRQER EKHFQREEQE RLERKKRLEE IMKRTRRTEA
TDKKTSDQRN GDIAKGALTG GTEVSALPCT TNAPGNGKPV GSPHVVTSHQ SKVTVESTPD
LEKQPNENGV SVQNENFEEI INLPIGSKPS RLDVTNSESP EIPLNPILAF DDEGTLGPLP
QVDGVQTQQT AEVI*

speed

0.68 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

Problems