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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000522690
Querying Taster for transcript #2: ENST00000521367
Querying Taster for transcript #3: ENST00000297164
Querying Taster for transcript #4: ENST00000518856
Querying Taster for transcript #5: ENST00000444782
Querying Taster for transcript #6: ENST00000435817
MT speed 0 s - this script 4.37804 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
RELL2	polymorphism_automatic	1.74316608403391e-06	simple_aae		affected		L67I	single base exchange	rs14251		show file
RELL2	polymorphism_automatic	1.74316608403391e-06	simple_aae		affected		L67I	single base exchange	rs14251		show file
RELL2	polymorphism_automatic	1.74316608403391e-06	simple_aae		affected		L133I	single base exchange	rs14251		show file
RELL2	polymorphism_automatic	1.74316608403391e-06	simple_aae		affected		L133I	single base exchange	rs14251		show file
ARAP3	polymorphism_automatic	1	without_aae		affected			single base exchange	rs14251		show file
FCHSD1	polymorphism_automatic	1	without_aae		affected			single base exchange	rs14251		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998256833916 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:141019110C>AN/A show variant in all transcripts IGV

HGNC symbol

RELL2

Ensembl transcript ID

ENST00000521367

Genbank transcript ID

N/A

UniProt peptide

Q8NC24

alteration type

single base exchange

alteration region

CDS

DNA changes

c.199C>A
cDNA.950C>A
g.2594C>A

AA changes

L67I Score: 5 explain score(s)

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

frameshift

known variant

Reference ID: rs14251

database	homozygous (A/A)	heterozygous	allele carriers
1000G	435	1121	1556
ExAC	10624	11519	22143

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.301	1
	2.155	1
(flanking)	3.492	1

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 increased	2593	wt: 0.43 / mu: 0.74	wt: CTGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAA mu: CTGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAA	ttgc\|CTCC
Acc increased	2597	wt: 0.70 / mu: 0.78	wt: GCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAGAGG mu: GCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAGAGG	ctcc\|ATTG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000017349

133

Mmulatta

all conserved

ENSMMUG00000012591

133

Fcatus

all conserved

ENSFCAG00000006905

133

Mmusculus

all conserved

ENSMUSG00000044024

133

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000071876

133

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000002692

134

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

699 / 699

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

233 / 233

position of stopcodon in wt / mu cDNA

1450 / 1450

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

752 / 752

chromosome

strand

last intron/exon boundary

1433

theoretical NMD boundary in CDS

631

length of CDS

699

coding sequence (CDS) position

199

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

950

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

2594

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

141019110

original gDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAG

altered gDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAG

original cDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAG

altered cDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAG

wildtype AA sequence

MNEDTVERIV RCIIQNEANA EALKEMLGDS EGEGTVQLSS VDATSSLQDG APSHHHTVHL
GSAAPCLHCS RSKRPPLVRQ GRSKEGKSRP RTGETTVFSV GRFRVTHIEK RYGLHEHRDG
SPTDRSWGSG GGQDPGGGQG SGGGQPKAGM PAMERLPPER PQPQVLASPP VQNGGLRDSS
LTPRALEGNP RASAEPTLRA GGRGPSPGLP TQEANGQPSK PDTSDHQSPS LC*

mutated AA sequence

MNEDTVERIV RCIIQNEANA EALKEMLGDS EGEGTVQLSS VDATSSLQDG APSHHHTVHL
GSAAPCIHCS RSKRPPLVRQ GRSKEGKSRP RTGETTVFSV GRFRVTHIEK RYGLHEHRDG
SPTDRSWGSG GGQDPGGGQG SGGGQPKAGM PAMERLPPER PQPQVLASPP VQNGGLRDSS
LTPRALEGNP RASAEPTLRA GGRGPSPGLP TQEANGQPSK PDTSDHQSPS LC*

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: 0.999998256833916 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:141019110C>AN/A show variant in all transcripts IGV

HGNC symbol

RELL2

Ensembl transcript ID

ENST00000518856

Genbank transcript ID

N/A

UniProt peptide

Q8NC24

alteration type

single base exchange

alteration region

CDS

DNA changes

c.199C>A
cDNA.520C>A
g.2594C>A

AA changes

L67I Score: 5 explain score(s)

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

frameshift

known variant

Reference ID: rs14251

database	homozygous (A/A)	heterozygous	allele carriers
1000G	435	1121	1556
ExAC	10624	11519	22143

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.301	1
	2.155	1
(flanking)	3.492	1

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 increased	2593	wt: 0.43 / mu: 0.74	wt: CTGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAA mu: CTGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAA	ttgc\|CTCC
Acc increased	2597	wt: 0.70 / mu: 0.78	wt: GCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAGAGG mu: GCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAGAGG	ctcc\|ATTG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

mutated

all conserved

Ptroglodytes

all conserved

ENSPTRG00000017349

133

Mmulatta

all conserved

ENSMMUG00000012591

133

Fcatus

all conserved

ENSFCAG00000006905

133

Mmusculus

all conserved

ENSMUSG00000044024

133

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000071876

133

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000002692

134

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

714 / 714

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

238 / 238

position of stopcodon in wt / mu cDNA

1035 / 1035

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

322 / 322

chromosome

strand

last intron/exon boundary

1037

theoretical NMD boundary in CDS

665

length of CDS

714

coding sequence (CDS) position

199

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

520

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

2594

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

141019110

original gDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAG

altered gDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAG

original cDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAG

altered cDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAG

wildtype AA sequence

mutated AA sequence

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998256833916 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:141019110C>AN/A show variant in all transcripts IGV

HGNC symbol

RELL2

Ensembl transcript ID

ENST00000297164

Genbank transcript ID

NM_173828

UniProt peptide

Q8NC24

alteration type

single base exchange

alteration region

CDS

DNA changes

c.397C>A
cDNA.1597C>A
g.2594C>A

AA changes

L133I Score: 5 explain score(s)

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

133

frameshift

known variant

Reference ID: rs14251

database	homozygous (A/A)	heterozygous	allele carriers
1000G	435	1121	1556
ExAC	10624	11519	22143

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.301	1
	2.155	1
(flanking)	3.492	1

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 increased	2593	wt: 0.43 / mu: 0.74	wt: CTGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAA mu: CTGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAA	ttgc\|CTCC
Acc increased	2597	wt: 0.70 / mu: 0.78	wt: GCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAGAGG mu: GCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAGAGG	ctcc\|ATTG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

133

mutated

all conserved

133

Ptroglodytes

all conserved

ENSPTRG00000017349

133

Mmulatta

all conserved

ENSMMUG00000012591

133

Fcatus

all conserved

ENSFCAG00000006905

133

Mmusculus

all conserved

ENSMUSG00000044024

133

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000071876

133

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000002692

134

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

912 / 912

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

304 / 304

position of stopcodon in wt / mu cDNA

2112 / 2112

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

1201 / 1201

chromosome

strand

last intron/exon boundary

2114

theoretical NMD boundary in CDS

863

length of CDS

912

coding sequence (CDS) position

397

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

1597

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

2594

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

141019110

original gDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAG

altered gDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAG

original cDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAG

altered cDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAG

wildtype AA sequence

MSEPQPDLEP PQHGLYMLFL LVLVFFLMGL VGFMICHVLK KKGYRCRTSR GSEPDDAQLQ
PPEDDDMNED TVERIVRCII QNEANAEALK EMLGDSEGEG TVQLSSVDAT SSLQDGAPSH
HHTVHLGSAA PCLHCSRSKR PPLVRQGRSK EGKSRPRTGE TTVFSVGRFR VTHIEKRYGL
HEHRDGSPTD RSWGSGGGQD PGGGQGSGGG QPKAGMPAME RLPPERPQPQ VLASPPVQNG
GLRDSSLTPR ALEGNPRASA EPTLRAGGRG PSPGLPTQEA NGQPSKPDTS DHQVSLPQGA
GSM*

mutated AA sequence

MSEPQPDLEP PQHGLYMLFL LVLVFFLMGL VGFMICHVLK KKGYRCRTSR GSEPDDAQLQ
PPEDDDMNED TVERIVRCII QNEANAEALK EMLGDSEGEG TVQLSSVDAT SSLQDGAPSH
HHTVHLGSAA PCIHCSRSKR PPLVRQGRSK EGKSRPRTGE TTVFSVGRFR VTHIEKRYGL
HEHRDGSPTD RSWGSGGGQD PGGGQGSGGG QPKAGMPAME RLPPERPQPQ VLASPPVQNG
GLRDSSLTPR ALEGNPRASA EPTLRAGGRG PSPGLPTQEA NGQPSKPDTS DHQVSLPQGA
GSM*

speed

0.81 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999998256833916 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:141019110C>AN/A show variant in all transcripts IGV

HGNC symbol

RELL2

Ensembl transcript ID

ENST00000444782

Genbank transcript ID

NM_001130029

UniProt peptide

Q8NC24

alteration type

single base exchange

alteration region

CDS

DNA changes

c.397C>A
cDNA.1245C>A
g.2594C>A

AA changes

L133I Score: 5 explain score(s)

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

133

frameshift

known variant

Reference ID: rs14251

database	homozygous (A/A)	heterozygous	allele carriers
1000G	435	1121	1556
ExAC	10624	11519	22143

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.301	1
	2.155	1
(flanking)	3.492	1

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 increased	2593	wt: 0.43 / mu: 0.74	wt: CTGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAA mu: CTGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAA	ttgc\|CTCC
Acc increased	2597	wt: 0.70 / mu: 0.78	wt: GCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAGAGG mu: GCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAGAGG	ctcc\|ATTG

distance from splice site

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

133

mutated

all conserved

133

Ptroglodytes

all conserved

ENSPTRG00000017349

133

Mmulatta

all conserved

ENSMMUG00000012591

133

Fcatus

all conserved

ENSFCAG00000006905

133

Mmusculus

all conserved

ENSMUSG00000044024

133

Ggallus

no homologue

Trubripes

no homologue

Drerio

all conserved

ENSDARG00000071876

133

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000002692

134

protein features

no protein features affected

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

912 / 912

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

304 / 304

position of stopcodon in wt / mu cDNA

1760 / 1760

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

849 / 849

chromosome

strand

last intron/exon boundary

1762

theoretical NMD boundary in CDS

863

length of CDS

912

coding sequence (CDS) position

397

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

1245

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

2594

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

141019110

original gDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAG

altered gDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAG

original cDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCCTCCATTGCAGCCGCAGCAAG

altered cDNA sequence snippet

TGGGCTCTGCAGCCCCTTGCATCCATTGCAGCCGCAGCAAG

wildtype AA sequence

mutated AA sequence

speed

0.71 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 2.04013373683515e-19 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:141019110C>AN/A show variant in all transcripts IGV

HGNC symbol

ARAP3

Ensembl transcript ID

ENST00000522690

Genbank transcript ID

N/A

UniProt peptide

Q8WWN8

alteration type

single base exchange

alteration region

intron

DNA changes

g.42679G>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs14251

database	homozygous (A/A)	heterozygous	allele carriers
1000G	435	1121	1556
ExAC	10624	11519	22143

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.301	1
	2.155	1
(flanking)	3.492	1

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

splice sites

splice site change occurs after stopcodon (at aa 788)

effect	gDNA position	score	detection sequence	exon-intron border
Donor increased	42674	wt: 0.42 / mu: 0.74	wt: CTGCAATGGAGGCAA mu: CTGCAATGGATGCAA	GCAA\|tgga
Donor marginally increased	42670	wt: 0.7315 / mu: 0.7906 (marginal change - not scored)	wt: GCGGCTGCAATGGAG mu: GCGGCTGCAATGGAT	GGCT\|gcaa
Donor marginally increased	42679	wt: 0.9101 / mu: 0.9238 (marginal change - not scored)	wt: ATGGAGGCAAGGGGC mu: ATGGATGCAAGGGGC	GGAG\|gcaa

distance from splice site

5602

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

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

222 / 222

chromosome

strand

-1

last intron/exon boundary

2585

theoretical NMD boundary in CDS

2313

length of CDS

1173

coding sequence (CDS) position

N/A

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

N/A

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

42679

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

141019110

original gDNA sequence snippet

CTTGCTGCGGCTGCAATGGAGGCAAGGGGCTGCAGAGCCCA

altered gDNA sequence snippet

CTTGCTGCGGCTGCAATGGATGCAAGGGGCTGCAGAGCCCA

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MEPSPSPAPQ AQPPKPVPKP RTVFGGLSGP ATTQRPGLSP ALGGPGVSRS PEPSPRPPPL
PTSSSEQSSA LNTVEMMPNS IYFGLDSRGR AQAAQDKAPD SSQISAPTPA LRPTTGTVHI
MDPGCLYYGV QPVGTPGAPD RRESRGVCQG RAEHRQDLEA REDAGYASLE LPGDSTLLSP
TLETEETSDD LISPYASFSF TADRLTPLLS GWLDKLSPQG NYVFQRRFVQ FNGRSLMYFG
SDKDPFPKGV IPLTAIEMTR SSKDNKFQVI TGQRVFVFRT ESEAQRDMWC STLQSCLKEQ
RLLGHPRPPQ PPRPLRTGML ELRGHKAKVF AALSPGELAL YKSEQAFSLG IGICFIELQG
CSVRETKSRS FDLLTPHRCF RAGRPLCRKQ *

mutated AA sequence

N/A

speed

0.54 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 2.04013373683515e-19 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:141019110C>AN/A show variant in all transcripts IGV

HGNC symbol

FCHSD1

Ensembl transcript ID

ENST00000435817

Genbank transcript ID

NM_033449

UniProt peptide

N/A

alteration type

single base exchange

alteration region

3'UTR

DNA changes

cDNA.4079G>T
g.11877G>T

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs14251

database	homozygous (A/A)	heterozygous	allele carriers
1000G	435	1121	1556
ExAC	10624	11519	22143

regulatory features

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

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.301	1
	2.155	1
(flanking)	3.492	1

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

splice sites

splice site change occurs after stopcodon (at aa 1342)

effect	gDNA position	score	detection sequence	exon-intron border
Donor marginally increased	11877	wt: 0.9101 / mu: 0.9238 (marginal change - not scored)	wt: ATGGAGGCAAGGGGC mu: ATGGATGCAAGGGGC	GGAG\|gcaa
Donor marginally increased	11868	wt: 0.7315 / mu: 0.7906 (marginal change - not scored)	wt: GCGGCTGCAATGGAG mu: GCGGCTGCAATGGAT	GGCT\|gcaa
Donor increased	11872	wt: 0.42 / mu: 0.74	wt: CTGCAATGGAGGCAA mu: CTGCAATGGATGCAA	GCAA\|tgga

distance from splice site

242

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

N/A

protein features

N/A

length of protein

N/A

AA sequence altered

N/A

position of stopcodon in wt / mu CDS

N/A

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

N/A

position of stopcodon in wt / mu cDNA

N/A

poly(A) signal

signal is predicted to be ok

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

52 / 52

chromosome

strand

-1

last intron/exon boundary

2059

theoretical NMD boundary in CDS

1957

length of CDS

2073

coding sequence (CDS) position

N/A

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

4079

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

11877

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

141019110

original gDNA sequence snippet

CTTGCTGCGGCTGCAATGGAGGCAAGGGGCTGCAGAGCCCA

altered gDNA sequence snippet

CTTGCTGCGGCTGCAATGGATGCAAGGGGCTGCAGAGCCCA

original cDNA sequence snippet

CTTGCTGCGGCTGCAATGGAGGCAAGGGGCTGCAGAGCCCA

altered cDNA sequence snippet

CTTGCTGCGGCTGCAATGGATGCAAGGGGCTGCAGAGCCCA

wildtype AA sequence

MQPPPRKVKP AQEVKLRFLE QLSILQTWQQ READLLEDIR SYSKQRAAIE REYGQALQKL
AGPFLKREGH RSGEMDSRGR TVFGAWRCLL DATVAGGQTR LQASDRYRDL AGGTGRSAKE
QVLRKGTENL QRAQAEVLQS VRELSRSRKL YGQRERVWAL AQEKAADVQA RLNRSDHGIF
HSRTSLQKLS TKLSAQSAQY SQQLQAARNE YLLNLVATNA HLDHYYQEEL PALLKALVSE
LSEHLRDPLT SLSHTELEAA EVILEHAHRG EQTTSQVSWE QDLKLFLQEP GVFSPTPPQQ
FQPAGTDQVC VLEWGAEGVA GKSGLEKEVQ RLTSRAARDY KIQNHGHRVL QRLEQRRQQA
SEREAPSIEQ RLQEVRESIR RAQVSQVKGA ARLALLQGAG LDVERWLKPA MTQAQDEVEQ
ERRLSEARLS QRDLSPTAED AELSDFEECE ETGELFEEPA PQALATRALP CPAHVVFRYQ
AGREDELTIT EGEWLEVIEE GDADEWVKAR NQHGEVGFVP ERYLNFPDLS LPESSQDSDN
PCGAEPTAFL AQALYSYTGQ SAEELSFPEG ALIRLLPRAQ DGVDDGFWRG EFGGRVGVFP
SLLVEELLGP PGPPELSDPE QMLPSPSPPS FSPPAPTSVL DGPPAPVLPG DKALDFPGFL
DMMAPRLRPM RPPPPPPAKA PDPGHPDPLT *

mutated AA sequence

N/A

speed

0.75 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems