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: ENST00000361835
Querying Taster for transcript #2: ENST00000368190
Querying Taster for transcript #3: ENST00000368189
Querying Taster for transcript #4: ENST00000356953
Querying Taster for transcript #5: ENST00000368191
MT speed 0 s - this script 4.848843 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
FCRL5	polymorphism_automatic	3.56104035148519e-12	simple_aae				V466I	single base exchange	rs6427384		show file
FCRL5	polymorphism_automatic	3.56104035148519e-12	simple_aae				V466I	single base exchange	rs6427384		show file
FCRL5	polymorphism_automatic	3.56104035148519e-12	simple_aae				V466I	single base exchange	rs6427384		show file
FCRL5	polymorphism_automatic	5.91304782915358e-12	simple_aae				V381I	single base exchange	rs6427384		show file
FCRL5	polymorphism_automatic	2.13730144693614e-11	simple_aae				V466I	single base exchange	rs6427384		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996439 (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)

chr1:157508882C>TN/A show variant in all transcripts IGV

HGNC symbol

FCRL5

Ensembl transcript ID

ENST00000361835

Genbank transcript ID

NM_001195388

UniProt peptide

Q96RD9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1396G>A
cDNA.1554G>A
g.13429G>A

AA changes

V466I Score: 29 explain score(s)

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

466

frameshift

known variant

Reference ID: rs6427384

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1338	796	2134
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.657	0.016
	-0.337	0.001
(flanking)	-2.081	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 decreased	13435	wt: 0.9113 / mu: 0.9008 (marginal change - not scored)	wt: CGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTTCCTGCC mu: CGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTTCCTGCC	actg\|GTAA
Donor marginally increased	13434	wt: 0.9981 / mu: 0.9984 (marginal change - not scored)	wt: GTCACTGGTAAGCCC mu: ATCACTGGTAAGCCC	CACT\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

466

mutated

all conserved

466

Ptroglodytes

all identical

ENSPTRG00000001487

466

Mmulatta

no alignment

ENSMMUG00000008974

n/a

Fcatus

all identical

ENSFCAG00000010042

555

Mmusculus

all conserved

ENSMUSG00000048031

484

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
16	851	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2934 / 2934

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

978 / 978

position of stopcodon in wt / mu cDNA

3092 / 3092

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

159 / 159

chromosome

strand

-1

last intron/exon boundary

3003

theoretical NMD boundary in CDS

2794

length of CDS

2934

coding sequence (CDS) position

1396

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

1554

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

13429

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

157508882

original gDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTT

altered gDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTT

original cDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCGTCACTGTCCCTGTGTCTCAT

altered cDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCATCACTGTCCCTGTGTCTCAT

wildtype AA sequence

MLLWVILLVL APVSGQFART PRPIIFLQPP WTTVFQGERV TLTCKGFRFY SPQKTKWYHR
YLGKEILRET PDNILEVQES GEYRCQAQGS PLSSPVHLDF SSASLILQAP LSVFEGDSVV
LRCRAKAEVT LNNTIYKNDN VLAFLNKRTD FHIPHACLKD NGAYRCTGYK ESCCPVSSNT
VKIQVQEPFT RPVLRASSFQ PISGNPVTLT CETQLSLERS DVPLRFRFFR DDQTLGLGWS
LSPNFQITAM WSKDSGFYWC KAATMPYSVI SDSPRSWIQV QIPASHPVLT LSPEKALNFE
GTKVTLHCET QEDSLRTLYR FYHEGVPLRH KSVRCERGAS ISFSLTTENS GNYYCTADNG
LGAKPSKAVS LSVTVPVSHP VLNLSSPEDL IFEGAKVTLH CEAQRGSLPI LYQFHHEGAA
LERRSANSAG GVAISFSLTA EHSGNYYCTA DNGFGPQRSK AVSLSVTVPV SHPVLTLSSA
EALTFEGATV TLHCEVQRGS PQILYQFYHE DMPLWSSSTP SVGRVSFSFS LTEGHSGNYY
CTADNGFGPQ RSEVVSLFVT VPVSRPILTL RVPRAQAVVG DLLELHCEAP RGSPPILYWF
YHEDVTLGSS SAPSGGEASF NLSLTAEHSG NYSCEANNGL VAQHSDTISL SVIVPVSRPI
LTFRAPRAQA VVGDLLELHC EALRGSSPIL YWFYHEDVTL GKISAPSGGG ASFNLSLTTE
HSGIYSCEAD NGLEAQRSEM VTLKVAVPVS RPVLTLRAPG THAAVGDLLE LHCEALRGSP
LILYRFFHED VTLGNRSSPS GGASLNLSLT AEHSGNYSCE ADNGLGAQRS ETVTLYITGL
TANRSGPFAT GVAGGLLSIA GLAAGALLLY CWLSRKAGRK PASDPARSPS DSDSQEPTYH
NVPAWEELQP VYTNANPRGE NVVYSEVRII QEKKKHAVAS DPRHLRNKGS PIIYSEVKVA
STPVSGSLFL ASSAPHR*

mutated AA sequence

MLLWVILLVL APVSGQFART PRPIIFLQPP WTTVFQGERV TLTCKGFRFY SPQKTKWYHR
YLGKEILRET PDNILEVQES GEYRCQAQGS PLSSPVHLDF SSASLILQAP LSVFEGDSVV
LRCRAKAEVT LNNTIYKNDN VLAFLNKRTD FHIPHACLKD NGAYRCTGYK ESCCPVSSNT
VKIQVQEPFT RPVLRASSFQ PISGNPVTLT CETQLSLERS DVPLRFRFFR DDQTLGLGWS
LSPNFQITAM WSKDSGFYWC KAATMPYSVI SDSPRSWIQV QIPASHPVLT LSPEKALNFE
GTKVTLHCET QEDSLRTLYR FYHEGVPLRH KSVRCERGAS ISFSLTTENS GNYYCTADNG
LGAKPSKAVS LSVTVPVSHP VLNLSSPEDL IFEGAKVTLH CEAQRGSLPI LYQFHHEGAA
LERRSANSAG GVAISFSLTA EHSGNYYCTA DNGFGPQRSK AVSLSITVPV SHPVLTLSSA
EALTFEGATV TLHCEVQRGS PQILYQFYHE DMPLWSSSTP SVGRVSFSFS LTEGHSGNYY
CTADNGFGPQ RSEVVSLFVT VPVSRPILTL RVPRAQAVVG DLLELHCEAP RGSPPILYWF
YHEDVTLGSS SAPSGGEASF NLSLTAEHSG NYSCEANNGL VAQHSDTISL SVIVPVSRPI
LTFRAPRAQA VVGDLLELHC EALRGSSPIL YWFYHEDVTL GKISAPSGGG ASFNLSLTTE
HSGIYSCEAD NGLEAQRSEM VTLKVAVPVS RPVLTLRAPG THAAVGDLLE LHCEALRGSP
LILYRFFHED VTLGNRSSPS GGASLNLSLT AEHSGNYSCE ADNGLGAQRS ETVTLYITGL
TANRSGPFAT GVAGGLLSIA GLAAGALLLY CWLSRKAGRK PASDPARSPS DSDSQEPTYH
NVPAWEELQP VYTNANPRGE NVVYSEVRII QEKKKHAVAS DPRHLRNKGS PIIYSEVKVA
STPVSGSLFL ASSAPHR*

speed

1.19 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: 0.999999999996439 (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)

chr1:157508882C>TN/A show variant in all transcripts IGV

HGNC symbol

FCRL5

Ensembl transcript ID

ENST00000368190

Genbank transcript ID

N/A

UniProt peptide

Q96RD9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1396G>A
cDNA.1489G>A
g.13429G>A

AA changes

V466I Score: 29 explain score(s)

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

466

frameshift

known variant

Reference ID: rs6427384

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1338	796	2134
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.657	0.016
	-0.337	0.001
(flanking)	-2.081	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 decreased	13435	wt: 0.9113 / mu: 0.9008 (marginal change - not scored)	wt: CGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTTCCTGCC mu: CGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTTCCTGCC	actg\|GTAA
Donor marginally increased	13434	wt: 0.9981 / mu: 0.9984 (marginal change - not scored)	wt: GTCACTGGTAAGCCC mu: ATCACTGGTAAGCCC	CACT\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

466

mutated

all conserved

466

Ptroglodytes

all identical

ENSPTRG00000001487

466

Mmulatta

no alignment

ENSMMUG00000008974

n/a

Fcatus

all identical

ENSFCAG00000010042

555

Mmusculus

all conserved

ENSMUSG00000048031

484

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
16	851	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2280 / 2280

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

760 / 760

position of stopcodon in wt / mu cDNA

2373 / 2373

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

2054

theoretical NMD boundary in CDS

1910

length of CDS

2280

coding sequence (CDS) position

1396

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

1489

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

13429

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

157508882

original gDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTT

altered gDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTT

original cDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCGTCACTGTCCCTGTGTCTCAT

altered cDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCATCACTGTCCCTGTGTCTCAT

wildtype AA sequence

mutated AA sequence

MLLWVILLVL APVSGQFART PRPIIFLQPP WTTVFQGERV TLTCKGFRFY SPQKTKWYHR
YLGKEILRET PDNILEVQES GEYRCQAQGS PLSSPVHLDF SSASLILQAP LSVFEGDSVV
LRCRAKAEVT LNNTIYKNDN VLAFLNKRTD FHIPHACLKD NGAYRCTGYK ESCCPVSSNT
VKIQVQEPFT RPVLRASSFQ PISGNPVTLT CETQLSLERS DVPLRFRFFR DDQTLGLGWS
LSPNFQITAM WSKDSGFYWC KAATMPYSVI SDSPRSWIQV QIPASHPVLT LSPEKALNFE
GTKVTLHCET QEDSLRTLYR FYHEGVPLRH KSVRCERGAS ISFSLTTENS GNYYCTADNG
LGAKPSKAVS LSVTVPVSHP VLNLSSPEDL IFEGAKVTLH CEAQRGSLPI LYQFHHEGAA
LERRSANSAG GVAISFSLTA EHSGNYYCTA DNGFGPQRSK AVSLSITVPV SHPVLTLSSA
EALTFEGATV TLHCEVQRGS PQILYQFYHE DMPLWSSSTP SVGRVSFSFS LTEGHSGNYY
CTADNGFGPQ RSEVVSLFVT VPVSRPILTL RVPRAQAVVG DLLELHCEAP RGSPPILYWF
YHEDVTLGSS SAPSGGEASF NLSLTAEHSG NYSCEANNGL VAQHSDTISL SVIVPVSRPI
LTFRAPRAQA VVGDLLELHC EALRGSSPIL YWFYHEDVTL GKISAPSGGG ASFNLSLTTE
HSGIYSCEAD NGLEAQRSEM VTLKVAGEWA LPTSSTSEN*

speed

1.32 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999996439 (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)

chr1:157508882C>TN/A show variant in all transcripts IGV

HGNC symbol

FCRL5

Ensembl transcript ID

ENST00000356953

Genbank transcript ID

N/A

UniProt peptide

Q96RD9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1396G>A
cDNA.1424G>A
g.13429G>A

AA changes

V466I Score: 29 explain score(s)

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

466

frameshift

known variant

Reference ID: rs6427384

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1338	796	2134
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.657	0.016
	-0.337	0.001
(flanking)	-2.081	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 decreased	13435	wt: 0.9113 / mu: 0.9008 (marginal change - not scored)	wt: CGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTTCCTGCC mu: CGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTTCCTGCC	actg\|GTAA
Donor marginally increased	13434	wt: 0.9981 / mu: 0.9984 (marginal change - not scored)	wt: GTCACTGGTAAGCCC mu: ATCACTGGTAAGCCC	CACT\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

466

mutated

all conserved

466

Ptroglodytes

all identical

ENSPTRG00000001487

466

Mmulatta

no alignment

ENSMMUG00000008974

n/a

Fcatus

all identical

ENSFCAG00000010042

555

Mmusculus

all conserved

ENSMUSG00000048031

484

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
16	851	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2934 / 2934

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

978 / 978

position of stopcodon in wt / mu cDNA

2962 / 2962

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

29 / 29

chromosome

strand

-1

last intron/exon boundary

2873

theoretical NMD boundary in CDS

2794

length of CDS

2934

coding sequence (CDS) position

1396

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

1424

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

13429

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

157508882

original gDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTT

altered gDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTT

original cDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCGTCACTGTCCCTGTGTCTCAT

altered cDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCATCACTGTCCCTGTGTCTCAT

wildtype AA sequence

MLLWVILLVL VPSPGQFPRT PRPIIFLQPP WTTVFQGERV TLTCKGFRFY SPQKTKWYHR
YLGKEILRET PDNILEVQES GEYRCQAQGS PLSSPVHLDF SSASLILQAP LSVFEGDSVV
LRCRAKAEVT LNNTIYKNDN VLAFLNKRTD FHIPHACLKD NGAYRCTGYK ESCCPVSSNT
VKIQVQEPFT RPVLRASSFQ PISGNPVTLT CETQLSLERS DVPLRFRFFR DDQTLGLGWS
LSPNFQITAM WSKDSGFYWC KAATMPYSVI SDSPRSWIQV QIPASHPVLT LSPEKALNFE
GTKVTLHCET QEDSLRTLYR FYHEGVPLRH KSVRCERGAS ISFSLTTENS GNYYCTADNG
LGAKPSKAVS LSVTVPVSHP VLNLSSPEDL IFEGAKVTLH CEAQRGSLPI LYQFHHEGAA
LERRSANSAG GVAISFSLTA EHSGNYYCTA DNGFGPQRSK AVSLSVTVPV SHPVLTLSSA
EALTFEGATV TLHCEVQRGS PQILYQFYHE DMPLWSSSTP SVGRVSFSFS LTEGHSGNYY
CTADNGFGPQ RSEVVSLFVT VPVSRPILTL RVPRAQAVVG DLLELHCEAP RGSPPILYWF
YHEDVTLGSS SAPSGGEASF NLSLTAEHSG NYSCEANNGL VAQHSDTISL SVIVPVSRPI
LTFRAPRAQA VVGDLLELHC EALRGSSPIL YWFYHEDVTL GKISAPSGGG ASFNLSLTTE
HSGIYSCEAD NGLEAQRSEM VTLKVAVPVS RPVLTLRAPG THAAVGDLLE LHCEALRGSP
LILYRFFHED VTLGNRSSPS GGASLNLSLT AEHSGNYSCE ADNGLGAQRS ETVTLYITGL
TANRSGPFAT GVAGGLLSIA GLAAGALLLY CWLSRKAGRK PASDPARSPS DSDSQEPTYH
NVPAWEELQP VYTNANPRGE NVVYSEVRII QEKKKHAVAS DPRHLRNKGS PIIYSEVKVA
STPVSGSLFL ASSAPHR*

mutated AA sequence

MLLWVILLVL VPSPGQFPRT PRPIIFLQPP WTTVFQGERV TLTCKGFRFY SPQKTKWYHR
YLGKEILRET PDNILEVQES GEYRCQAQGS PLSSPVHLDF SSASLILQAP LSVFEGDSVV
LRCRAKAEVT LNNTIYKNDN VLAFLNKRTD FHIPHACLKD NGAYRCTGYK ESCCPVSSNT
VKIQVQEPFT RPVLRASSFQ PISGNPVTLT CETQLSLERS DVPLRFRFFR DDQTLGLGWS
LSPNFQITAM WSKDSGFYWC KAATMPYSVI SDSPRSWIQV QIPASHPVLT LSPEKALNFE
GTKVTLHCET QEDSLRTLYR FYHEGVPLRH KSVRCERGAS ISFSLTTENS GNYYCTADNG
LGAKPSKAVS LSVTVPVSHP VLNLSSPEDL IFEGAKVTLH CEAQRGSLPI LYQFHHEGAA
LERRSANSAG GVAISFSLTA EHSGNYYCTA DNGFGPQRSK AVSLSITVPV SHPVLTLSSA
EALTFEGATV TLHCEVQRGS PQILYQFYHE DMPLWSSSTP SVGRVSFSFS LTEGHSGNYY
CTADNGFGPQ RSEVVSLFVT VPVSRPILTL RVPRAQAVVG DLLELHCEAP RGSPPILYWF
YHEDVTLGSS SAPSGGEASF NLSLTAEHSG NYSCEANNGL VAQHSDTISL SVIVPVSRPI
LTFRAPRAQA VVGDLLELHC EALRGSSPIL YWFYHEDVTL GKISAPSGGG ASFNLSLTTE
HSGIYSCEAD NGLEAQRSEM VTLKVAVPVS RPVLTLRAPG THAAVGDLLE LHCEALRGSP
LILYRFFHED VTLGNRSSPS GGASLNLSLT AEHSGNYSCE ADNGLGAQRS ETVTLYITGL
TANRSGPFAT GVAGGLLSIA GLAAGALLLY CWLSRKAGRK PASDPARSPS DSDSQEPTYH
NVPAWEELQP VYTNANPRGE NVVYSEVRII QEKKKHAVAS DPRHLRNKGS PIIYSEVKVA
STPVSGSLFL ASSAPHR*

speed

1.29 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999994087 (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)

chr1:157508882C>TN/A show variant in all transcripts IGV

HGNC symbol

FCRL5

Ensembl transcript ID

ENST00000368191

Genbank transcript ID

N/A

UniProt peptide

Q96RD9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1141G>A
cDNA.1272G>A
g.13429G>A

AA changes

V381I Score: 29 explain score(s)

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

381

frameshift

known variant

Reference ID: rs6427384

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1338	796	2134
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.657	0.016
	-0.337	0.001
(flanking)	-2.081	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 decreased	13435	wt: 0.9113 / mu: 0.9008 (marginal change - not scored)	wt: CGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTTCCTGCC mu: CGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTTCCTGCC	actg\|GTAA
Donor marginally increased	13434	wt: 0.9981 / mu: 0.9984 (marginal change - not scored)	wt: GTCACTGGTAAGCCC mu: ATCACTGGTAAGCCC	CACT\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

381

mutated

all conserved

381

Ptroglodytes

all identical

ENSPTRG00000001487

466

Mmulatta

no alignment

ENSMMUG00000008974

n/a

Fcatus

all identical

ENSFCAG00000010042

555

Mmusculus

all conserved

ENSMUSG00000048031

484

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
16	851	TOPO_DOM	Extracellular (Potential).	lost
380	463	DOMAIN	Ig-like C2-type 4.	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2025 / 2025

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

675 / 675

position of stopcodon in wt / mu cDNA

2156 / 2156

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

132 / 132

chromosome

strand

-1

last intron/exon boundary

1837

theoretical NMD boundary in CDS

1655

length of CDS

2025

coding sequence (CDS) position

1141

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

1272

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

13429

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

157508882

original gDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTT

altered gDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTT

original cDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCGTCACTGTCCCTGTGTCTCAT

altered cDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCATCACTGTCCCTGTGTCTCAT

wildtype AA sequence

MLLWVILLVL APVSGQFASL ILQAPLSVFE GDSVVLRCRA KAEVTLNNTI YKNDNVLAFL
NKRTDFHIPH ACLKDNGAYR CTGYKESCCP VSSNTVKIQV QEPFTRPVLR ASSFQPISGN
PVTLTCETQL SLERSDVPLR FRFFRDDQTL GLGWSLSPNF QITAMWSKDS GFYWCKAATM
PYSVISDSPR SWIQVQIPAS HPVLTLSPEK ALNFEGTKVT LHCETQEDSL RTLYRFYHEG
VPLRHKSVRC ERGASISFSL TTENSGNYYC TADNGLGAKP SKAVSLSVTV PVSHPVLNLS
SPEDLIFEGA KVTLHCEAQR GSLPILYQFH HEGAALERRS ANSAGGVAIS FSLTAEHSGN
YYCTADNGFG PQRSKAVSLS VTVPVSHPVL TLSSAEALTF EGATVTLHCE VQRGSPQILY
QFYHEDMPLW SSSTPSVGRV SFSFSLTEGH SGNYYCTADN GFGPQRSEVV SLFVTVPVSR
PILTLRVPRA QAVVGDLLEL HCEAPRGSPP ILYWFYHEDV TLGSSSAPSG GEASFNLSLT
AEHSGNYSCE ANNGLVAQHS DTISLSVIVP VSRPILTFRA PRAQAVVGDL LELHCEALRG
SSPILYWFYH EDVTLGKISA PSGGGASFNL SLTTEHSGIY SCEADNGLEA QRSEMVTLKV
AGEWALPTSS TSEN*

mutated AA sequence

MLLWVILLVL APVSGQFASL ILQAPLSVFE GDSVVLRCRA KAEVTLNNTI YKNDNVLAFL
NKRTDFHIPH ACLKDNGAYR CTGYKESCCP VSSNTVKIQV QEPFTRPVLR ASSFQPISGN
PVTLTCETQL SLERSDVPLR FRFFRDDQTL GLGWSLSPNF QITAMWSKDS GFYWCKAATM
PYSVISDSPR SWIQVQIPAS HPVLTLSPEK ALNFEGTKVT LHCETQEDSL RTLYRFYHEG
VPLRHKSVRC ERGASISFSL TTENSGNYYC TADNGLGAKP SKAVSLSVTV PVSHPVLNLS
SPEDLIFEGA KVTLHCEAQR GSLPILYQFH HEGAALERRS ANSAGGVAIS FSLTAEHSGN
YYCTADNGFG PQRSKAVSLS ITVPVSHPVL TLSSAEALTF EGATVTLHCE VQRGSPQILY
QFYHEDMPLW SSSTPSVGRV SFSFSLTEGH SGNYYCTADN GFGPQRSEVV SLFVTVPVSR
PILTLRVPRA QAVVGDLLEL HCEAPRGSPP ILYWFYHEDV TLGSSSAPSG GEASFNLSLT
AEHSGNYSCE ANNGLVAQHS DTISLSVIVP VSRPILTFRA PRAQAVVGDL LELHCEALRG
SSPILYWFYH EDVTLGKISA PSGGGASFNL SLTTEHSGIY SCEADNGLEA QRSEMVTLKV
AGEWALPTSS TSEN*

speed

1.24 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999978627 (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)

chr1:157508882C>TN/A show variant in all transcripts IGV

HGNC symbol

FCRL5

Ensembl transcript ID

ENST00000368189

Genbank transcript ID

N/A

UniProt peptide

Q96RD9

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1396G>A
cDNA.1489G>A
g.13429G>A

AA changes

V466I Score: 29 explain score(s)

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

466

frameshift

known variant

Reference ID: rs6427384

database	homozygous (T/T)	heterozygous	allele carriers
1000G	1338	796	2134
ExAC	-	-	-

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	1.657	0.016
	-0.337	0.001
(flanking)	-2.081	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 decreased	13435	wt: 0.9113 / mu: 0.9008 (marginal change - not scored)	wt: CGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTTCCTGCC mu: CGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTTCCTGCC	actg\|GTAA
Donor marginally increased	13434	wt: 0.9981 / mu: 0.9984 (marginal change - not scored)	wt: GTCACTGGTAAGCCC mu: ATCACTGGTAAGCCC	CACT\|ggta

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

466

mutated

all conserved

466

Ptroglodytes

all identical

ENSPTRG00000001487

466

Mmulatta

all identical

ENSMMUG00000008974

204

Fcatus

all identical

ENSFCAG00000010042

647

Mmusculus

all conserved

ENSMUSG00000048031

484

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
16	851	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1779 / 1779

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

593 / 593

position of stopcodon in wt / mu cDNA

1872 / 1872

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

1496

theoretical NMD boundary in CDS

1352

length of CDS

1779

coding sequence (CDS) position

1396

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

1489

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

13429

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

157508882

original gDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCGTCACTGGTAAGCCCTGGGTT

altered gDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCATCACTGGTAAGCCCTGGGTT

original cDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCGTCACTGTCCCTGTGTCTCAT

altered cDNA sequence snippet

GTAAGGCGGTGAGCCTCTCCATCACTGTCCCTGTGTCTCAT

wildtype AA sequence

mutated AA sequence

speed

1.21 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