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 13 transcript(s)...
Querying Taster for transcript #1: ENST00000504120
Querying Taster for transcript #2: ENST00000394633
Querying Taster for transcript #3: ENST00000526136
Querying Taster for transcript #4: ENST00000522353
Querying Taster for transcript #5: ENST00000512229
Querying Taster for transcript #6: ENST00000530339
Querying Taster for transcript #7: ENST00000529619
Querying Taster for transcript #8: ENST00000529859
Querying Taster for transcript #9: ENST00000529310
Querying Taster for transcript #10: ENST00000527624
Querying Taster for transcript #11: ENST00000525929
Querying Taster for transcript #12: ENST00000531613
Querying Taster for transcript #13: ENST00000378123
MT speed 0 s - this script 8.199669 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
PCDHA8	polymorphism_automatic	7.48956452412131e-13	simple_aae				K579E	single base exchange	rs6580012		show file
PCDHA8	polymorphism_automatic	7.48956452412131e-13	simple_aae				K579E	single base exchange	rs6580012		show file
PCDHA1	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file
PCDHA1	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file
PCDHA4	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file
PCDHA2	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file
PCDHA3	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file
PCDHA5	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file
PCDHA4	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file
PCDHA5	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file
PCDHA6	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file
PCDHA6	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file
PCDHA7	polymorphism_automatic	3.6871307496078e-07	without_aae					single base exchange	rs6580012		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999251 (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)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA8

Ensembl transcript ID

ENST00000531613

Genbank transcript ID

NM_018911

UniProt peptide

Q9Y5H6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1735A>G
cDNA.1735A>G
g.1735A>G

AA changes

K579E Score: 56 explain score(s)

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

579

frameshift

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	1727	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

660

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

579

mutated

all conserved

579

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000032691

578

protein features

start (aa)	end (aa)	feature	details
30	697	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2853 / 2853

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

951 / 951

position of stopcodon in wt / mu cDNA

2853 / 2853

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

2543

theoretical NMD boundary in CDS

2492

length of CDS

2853

coding sequence (CDS) position

1735

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

1735

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

1735

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered cDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

wildtype AA sequence

MDYHWRGELG SWRLLLLLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKR HRDLLEVSLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDVNDNP PVFRVKDQKL FVSESRMPDS RFPLEGASDA DVGANSVLTY RLSSHDYFML
DVNSKNDENK LVELVLRKSL DREDAPAHHL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP
TFEQSEYEVR IFENADNGTT VIKLNASDPD EGANGAISYS FNSLVETMVI DHFSIDRNTG
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI ALTSLSLPVR
EDAQFGTVIA LISVNDLDSG ANGQVTCSLM PHVPFKLVST FKNYYSLVLD SALDRERVSA
YELVVTARDG GSPSLWATAS LSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERSLSSYISV HTESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLEPRV GGTGGAASKL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPAASSPRI PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RQSAGVLGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSALPTEG GCRAGKPTLV CSSAVGSWSY SQQQPQRVCS GEGPPKTDLM AFSPCLPPDL
GSVDVGEEQD LNVDHGLKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ *

mutated AA sequence

MDYHWRGELG SWRLLLLLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKR HRDLLEVSLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDVNDNP PVFRVKDQKL FVSESRMPDS RFPLEGASDA DVGANSVLTY RLSSHDYFML
DVNSKNDENK LVELVLRKSL DREDAPAHHL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP
TFEQSEYEVR IFENADNGTT VIKLNASDPD EGANGAISYS FNSLVETMVI DHFSIDRNTG
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI ALTSLSLPVR
EDAQFGTVIA LISVNDLDSG ANGQVTCSLM PHVPFKLVST FKNYYSLVLD SALDRERVSA
YELVVTARDG GSPSLWATAS LSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERSLSSYISV HTESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLEPRV GGTGGAASEL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPAASSPRI PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RQSAGVLGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSALPTEG GCRAGKPTLV CSSAVGSWSY SQQQPQRVCS GEGPPKTDLM AFSPCLPPDL
GSVDVGEEQD LNVDHGLKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ *

speed

0.96 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: 0.999999999999251 (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)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA8

Ensembl transcript ID

ENST00000378123

Genbank transcript ID

NM_031856

UniProt peptide

Q9Y5H6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1735A>G
cDNA.1735A>G
g.1735A>G

AA changes

K579E Score: 56 explain score(s)

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

579

frameshift

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	1727	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

711

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

579

mutated

all conserved

579

Ptroglodytes

no homologue

Mmulatta

no homologue

Fcatus

no homologue

Mmusculus

no homologue

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

all conserved

ENSXETG00000032691

578

protein features

start (aa)	end (aa)	feature	details
30	697	TOPO_DOM	Extracellular (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

2445 / 2445

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

815 / 815

position of stopcodon in wt / mu cDNA

2445 / 2445

poly(A) signal

N/A

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

N/A

position of start ATG in wt / mu cDNA

1 / 1

chromosome

strand

last intron/exon boundary

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

2445

coding sequence (CDS) position

1735

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

1735

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

1735

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered cDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

wildtype AA sequence

mutated AA sequence

MDYHWRGELG SWRLLLLLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKR HRDLLEVSLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDVNDNP PVFRVKDQKL FVSESRMPDS RFPLEGASDA DVGANSVLTY RLSSHDYFML
DVNSKNDENK LVELVLRKSL DREDAPAHHL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP
TFEQSEYEVR IFENADNGTT VIKLNASDPD EGANGAISYS FNSLVETMVI DHFSIDRNTG
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI ALTSLSLPVR
EDAQFGTVIA LISVNDLDSG ANGQVTCSLM PHVPFKLVST FKNYYSLVLD SALDRERVSA
YELVVTARDG GSPSLWATAS LSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERSLSSYISV HTESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLEPRV GGTGGAASEL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPAASSPRI PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RQSAGVLGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSALPTEG GCRAGKPTLV CSSAVGSWSY SQQQPQRVCS GEGPPKTDLM AFSPCLPPDL
GSVDVGEEQD LNVDHGLKVS PFKFRTHKFY LWKL*

speed

0.88 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA1

Ensembl transcript ID

ENST00000504120

Genbank transcript ID

NM_018900

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.56766A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	56758	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

54372

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

1 / 1

chromosome

strand

last intron/exon boundary

2543

theoretical NMD boundary in CDS

2492

length of CDS

2853

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)

56766

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVFSRRGGLG ARDLLLWLLL LAAWEVGSGQ LHYSIPEEAK HGTFVGRVAQ DLGLELAELV
PRLFRVASKT HRDLLEVNLQ NGILFVNSRI DREELCQWSA ECSIHLELIA DRPLQVFHVE
VKVKDINDNP PVFRGREQII FIPESRLLNS RFPIEGAADA DIGANALLTY TLSPSDYFSL
DVEASDELSK SLWLELRKYL DREETPELHL LLTATDGGKP ELQGTVELLI TVLDVNDNAP
LFDQAVYRVH LLETTANGTL VTTLNASDAD EGVNGEVVFS FDSGISRDIQ EKFKVDSSSG
EIRLIDKLDY EETKSYEIQV KAVDKGSPPM SNHCKVLVKV LDVNDNAPEL AVTSLYLPIR
EDAPLSTVIA LITVSDRDSG ANGQVTCSLM PHVPFKLVST FKNYYSLVLD SALDRESLSV
YELVVTARDG GSPSLWATAR VSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERALSNYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLAPRV GGTIGAVSEL VPRLVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPAAGGARI PFRVGLYTGE ISTTRVLDEA DLSRYRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RASVGVAGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSVPPTEG AYVPGKPTLV CSSALGSWSN SQQRRQRVCS SEGPPKTDLM AFSPGLSPSL
NTSERNEQPE ANLDLSGNPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ *

mutated AA sequence

N/A

speed

0.79 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA1

Ensembl transcript ID

ENST00000394633

Genbank transcript ID

NM_031411

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.56766A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	56758	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

55164

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

1 / 1

chromosome

strand

last intron/exon boundary

1751

theoretical NMD boundary in CDS

1700

length of CDS

2061

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)

56766

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVFSRRGGLG ARDLLLWLLL LAAWEVGSGQ LHYSIPEEAK HGTFVGRVAQ DLGLELAELV
PRLFRVASKT HRDLLEVNLQ NGILFVNSRI DREELCQWSA ECSIHLELIA DRPLQVFHVE
VKVKDINDNP PVFRGREQII FIPESRLLNS RFPIEGAADA DIGANALLTY TLSPSDYFSL
DVEASDELSK SLWLELRKYL DREETPELHL LLTATDGGKP ELQGTVELLI TVLDVNDNAP
LFDQAVYRVH LLETTANGTL VTTLNASDAD EGVNGEVVFS FDSGISRDIQ EKFKVDSSSG
EIRLIDKLDY EETKSYEIQV KAVDKGSPPM SNHCKVLVKV LDVNDNAPEL AVTSLYLPIR
EDAPLSTVIA LITVSDRDSG ANGQVTCSLM PHVPFKLVST FKNYYSLVLD SALDRESLSV
YELVVTARDG GSPSLWATAR VSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERALSNYVSV HAESGKVYAL QPLDHEELEL LQFQPRQPNP
DWRYSASLRA GMHSSVHLEE AGILRAGPGG PDQQWPTVSS ATPEPEAGEV SPPVGAGVNS
NSWTFKYGPG NPKQSGPGEL PDKFIIPGSP AIISIRQEPT NSQIDKSDFI TFGKKEETKK
KKKKKKGNKT QEKKEKGNST TDNSDQ*

mutated AA sequence

N/A

speed

0.98 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA4

Ensembl transcript ID

ENST00000512229

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.35983A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	35975	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

33484

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

115 / 115

chromosome

strand

last intron/exon boundary

2750

theoretical NMD boundary in CDS

2585

length of CDS

2706

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)

35983

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MEFSWGSGQE SRRLLLLLLL LAAWEAGNGQ LHYSVSEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKG RGGLLEVNLQ NGILFVNSRI DREELCRRSA ECSIHLEVIV DRPLQVFHVD
VEVRDINDNP PVFPATQKNL SIAESRPLDS RFPLEGASDA DIGENALLTY RLSPNEYFSL
EKPPDDELVK GLGLILRKSL DREEAPEIFL VLTATDGGKP ELTGTVQLLI TVLDANDNAP
AFDRTIYKVR LLENVPNGTL VIKLNASDLD EGLNGDIVYS FSNDISPNVK SKFHIDPITG
QIIVKGYIDF EESKSYEIIV EGIDKGQLPL SGHCRVIVEV EDNNDNVPDL EFKSLSLPIR
EDAPLGTVIA LISVSDKDMG VNGLVTCSLT SHVPFKLVST FKNYYSLVLD SALDRESVSA
YELVVTARDG GSPSLWATAS VSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAW
DADAQENALV SYSLVERRVG ERALSSYVSV HAESGKVYAL QPLDHEELEL LQFQVTARDA
GVPPLGSNVT LQVFVLDEND NAPALLAPRA GGTGGAVSEL VPWSVGVGHV VAKVRAVDAD
SGYNAWLSYE LQPGTGGARI PFRVGLYTGE ISTTRALDET DAPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RALVGAVGPD AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSALPTEG ACAPGKPTLV CSSAVGSWSY SQQRRPRVCS GEGPPKTDLM AFSPSLPDSR
DREDQLQTTE ESFAKPRQPN PDWRYSASLR AGMHSSVHLE EAGILRAGPG GPDQQWPTVS
SATPEPEAGE VSPPVGAGVN SNSWTFKYGP GNPKQSGPEP KKQTQVSFLL RRKGEASQPR
Q*

mutated AA sequence

N/A

speed

1.00 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA2

Ensembl transcript ID

ENST00000526136

Genbank transcript ID

NM_018905

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.48198A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	48190	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

45704

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

1 / 1

chromosome

strand

last intron/exon boundary

2537

theoretical NMD boundary in CDS

2486

length of CDS

2847

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)

48198

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MASSIRRGRG AWTRLLSLLL LAAWEVGSGQ LRYSVPEEAK HGTFVGRIAQ DLGLELEELV
PRLFRVASKR HGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHVEVIV DRPLQVFHVE
VEVKDINDNP PIFPMTVKTI RFPESRLLDS RFPLEGASDA DIGVNALLSY KLSSSEFFFL
DIQANDELSE SLSLVLGKSL DREETAEVNL LLVATDGGKP ELTGTVQILI KVLDVNDNEP
TFAQSVYKVK LLENTANGTL VVKLNASDAD EGPNSEIVYS LGSDVSSTIQ TKFTIDPISG
EIRTKGKLDY EEAKSYEIQV TATDKGTPSM SGHCKISLKL VDINDNTPEV SITSLSLPIS
ENASLGTVIA LITVSDRDSG TNGHVTCSLT PHVPFKLVST FKNYYSLVLD SALDRESVSA
YELVVTARDG GSPSLWATTS VSIEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAW
DADAQENALV SYSLVERRVG ERALSSYVSV HAESGKVYAL QPLDHEEVEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLAPRA GTAAGAVSEL VPWSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQLGTGSARI PFRVGLYTGE ISTTRALDEA DSPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RAWVGAAGSE ATLVDVNVYL IIAICAVSSL LVLTVLLYTA
LRCSVPPTEG ARAPGKPTLV CSSAVGSWSY SQQRRQRVCS GEDPPKTDLM AFSPSLSQGP
DSAEEKQLSE SEYVGKPRQP NPDWRYSASL RAGMHSSVHL EEAGILRAGP GGPDQQWPTV
SSATPEPEAG EVSPPVGAGV NSNSWTFKYG PGNPKQSGPG ELPDKFIIPG SPAIISIRQE
PTNSQIDKSD FITFGKKEET KKKKKKKKGN KTQEKKEKGN STTDNSDQ*

mutated AA sequence

N/A

speed

0.73 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA3

Ensembl transcript ID

ENST00000522353

Genbank transcript ID

NM_018906

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.41859A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	41851	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

39465

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

1 / 1

chromosome

strand

last intron/exon boundary

2543

theoretical NMD boundary in CDS

2492

length of CDS

2853

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)

41859

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MLFSWREDPG AQCLLLSLLL LAASEVGSGQ LHYSVSEEAK HGTFVGRIAQ DLGLELAELV
PRLFRVASKR HGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVE
VEVKDINDNA PVFPMAVKNL FISESRQPGS RFSLEGASDA DIGTNSLLTY SLDSTEYFTL
DVKRNDEEIK SLGLVLKKNL NREDTPKHYL LITAIDGGKP ELTGTTQLKI TVLDVNDNAP
AFERTIYKVR LLENAPNGTL VVTVNATDLD EGVNKDIAYS FNTDMSADIL SKFHLDPVNG
QISVKGNIDF EESKSYEIQV EATDKGNPPM SDHCTVLLEI VDINDNVPEL VIQSLSLPVL
EDSPLSTVIA LISVSDRDSG VNGQVTCSLT PHVPFKLVST FKNYYSLVLD SPLDRESVSA
YELVVTARDG GSPSLWATAS VSVEVADVND NAPAFSQSEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERALSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLMPRV GGIGGAVSEL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPGTGGARI PFRVGLYTGE ISTTRALDEV DAPRHRLLVL VKDHGEPSLT
ATATVLVSLV ESGQAPKASS QASAGATGPE AALVDVNVYL IVAICAVSSL LVLTLLLYTA
LRCSAPPTEG DCGPGKPTLV CSSAVGSWSY SQQRQQRVCS GEGLPKTDLM AFSPSLPPCP
ISRDREEKQD VDVDLSAKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ *

mutated AA sequence

N/A

speed

0.83 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA5

Ensembl transcript ID

ENST00000529619

Genbank transcript ID

N/A

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.21420A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	21412	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

18929

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

140 / 140

chromosome

strand

last intron/exon boundary

2742

theoretical NMD boundary in CDS

2552

length of CDS

2673

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)

21420

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVYSRRGSLG SRLLLLWLLL AYWKAGSGQL HYSIPEEAKH GTFVGRIAQD LGLELAELVP
RLFRVASKGR GDLLEVNLQN GILFVNSRID REELCRRRAE CSIHLEVIVD RPLQVFHVEV
AVKDINDNPP RFSRQEQRLF ILESRMPDSR FPLEGASDLD IGANAQLRYR LNPNEYFDLD
VKTNEEETNF LELVLRKSLD REETQEHRLL VIATDGGKPE LTGTVQLLIN VLDANDNAPE
FDKSIYNVRL LENAPSGTLV IKLNASDADE GINKEIVYFF SNLVLDDVKS KFIINSNTGE
IKVNGELDYE DYNSYEINID AMDKSTFPLS GHCKVVVKLL DVNDNTPEMA ITTLFLPVKE
DAPLSTVIAL ISVSDRDSGA NGQVTCSLMP HVPFKLVSTF KNYYSLVLDS ALDRESVSVY
ELVVTARDGG SPSLWATASV SVEVADVNDN APAFAQPQYT VFVKENNPPG CHIFTVSARD
ADAQENALVS YSLVERRVGE RPLSSYVSVH AESGKVYALQ PLDHEEVELL QFQVSARDAG
VPPLGSNVTL QVFVLDENDN APALLVPRVG GTGGAVSELV PRSVGAGHVV AKVRAVDPDS
GYNAWLSYEL QPAPGSARIP FRVGLYTGEI STTRSLDETE APRHRLLVLV KDHGEPPLTA
TATVLVSLVE SGQAPKASSR ASAGAVGPEA ALVDVNVYLI IAICAVSSLL VLTLLLYTAL
RCSAQPTEAV CTRGKPTLLC SSAVGSWSYS QQRRQRVCSG EAPPKTDLMA FSPSLPQGPT
STDNPRQPNP DWRYSASLRA GMHSSVHLEE AGILRAGPGG PDQQWPTVSS ATPEPEAGEV
SPPVGAGVNS NSWTFKYGPG NPKQSGPEPK KQTQVSFLLR RKGEASQPRQ *

mutated AA sequence

N/A

speed

0.72 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA4

Ensembl transcript ID

ENST00000530339

Genbank transcript ID

NM_018907

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.35983A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	35975	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

33484

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

1 / 1

chromosome

strand

last intron/exon boundary

2534

theoretical NMD boundary in CDS

2483

length of CDS

2844

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)

35983

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.80 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA5

Ensembl transcript ID

ENST00000529859

Genbank transcript ID

NM_018908

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.21420A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	21412	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

18929

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

1 / 1

chromosome

strand

last intron/exon boundary

2501

theoretical NMD boundary in CDS

2450

length of CDS

2811

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)

21420

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

mutated AA sequence

N/A

speed

0.50 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA6

Ensembl transcript ID

ENST00000527624

Genbank transcript ID

NM_031849

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.15079A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	15071	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

13363

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

28 / 28

chromosome

strand

last intron/exon boundary

1778

theoretical NMD boundary in CDS

1700

length of CDS

2061

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)

15079

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVFTPEDRLG KQCLLLPLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
PRLFRMASKD REDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVRDINDNP PLFPVEEQRV LIYESRLPDS VFPLEGASDA DVGSNSILTY KLSSSEYFGL
DVKINSDDNK QIGLLLKKSL DREEAPAHNL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP
TFEQSEYEVR IFENADNGTT VIRLNASDRD EGANGAISYS FNSLVAAMVI DHFSIDRNTG
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI ALTSLSLPVR
EDAQFGTVIA LISVNDLDSG ANGQVNCSLT PHVPFKLVST FKNYYSLVLD SALDRESVSA
YELVVTARDG GSPSLWATAS LSVEVADMND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERALSSYISV HAESGKVYAL QPLDHEELEL LQFQPRQPNP
DWRYSASLRA GMHSSVHLEE AGILRAGPGG PDQQWPTVSS ATPEPEAGEV SPPVGAGVNS
NSWTFKYGPG NPKQSGPGEL PDKFIIPGSP AIISIRQEPT NSQIDKSDFI TFGKKEETKK
KKKKKKGNKT QEKKEKGNST TDNSDQ*

mutated AA sequence

N/A

speed

1.06 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA6

Ensembl transcript ID

ENST00000529310

Genbank transcript ID

NM_018909

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.15079A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	15071	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

12571

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

115 / 115

chromosome

strand

last intron/exon boundary

2657

theoretical NMD boundary in CDS

2492

length of CDS

2853

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)

15079

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVFTPEDRLG KQCLLLPLLL LAAWKVGSGQ LHYSVPEEAK HGTFVGRIAQ DLGLELAELV
PRLFRMASKD REDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVRDINDNP PLFPVEEQRV LIYESRLPDS VFPLEGASDA DVGSNSILTY KLSSSEYFGL
DVKINSDDNK QIGLLLKKSL DREEAPAHNL FLTATDGGKP ELTGTVQLLV TVLDVNDNAP
TFEQSEYEVR IFENADNGTT VIRLNASDRD EGANGAISYS FNSLVAAMVI DHFSIDRNTG
EIVIRGNLDF EQENLYKILI DATDKGHPPM AGHCTVLVRI LDKNDNVPEI ALTSLSLPVR
EDAQFGTVIA LISVNDLDSG ANGQVNCSLT PHVPFKLVST FKNYYSLVLD SALDRESVSA
YELVVTARDG GSPSLWATAS LSVEVADMND NAPAFAQPEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRVG ERALSSYISV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLAPRV GGTGGAVSEL VPRSLGAGQV VAKVRAVDAD
SGYNAWLSYE LQPPASSARF PFRVGLYTGE ISTTRVLDEA DSPRHRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKASS RASVGAAGPE AALVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSAPPTEG ACTADKPTLV CSSAVGSWSY SQQRRQRVCS GEGPPKMDLM AFSPSLSPCP
IMMGKAENQD LNEDHDAKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ *

mutated AA sequence

N/A

speed

0.50 s

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999631286925 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

homozygous in TGP or ExAC

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr5:140222641A>GN/A show variant in all transcripts IGV

HGNC symbol

PCDHA7

Ensembl transcript ID

ENST00000525929

Genbank transcript ID

NM_018910

UniProt peptide

N/A

alteration type

single base exchange

alteration region

intron

DNA changes

g.8673A>G

AA changes

N/A

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

N/A

frameshift

N/A

known variant

Reference ID: rs6580012

database	homozygous (G/G)	heterozygous	allele carriers
1000G	935	1012	1947
ExAC	17669	-2571	15098

regulatory features

H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	-0.115	0
	0.366	0.003
(flanking)	1.034	0.004

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 marginally increased	8665	wt: 0.3262 / mu: 0.3281 (marginal change - not scored)	wt: TGGCGCAGCGAGCAA mu: TGGCGCAGCGAGCGA	GCGC\|agcg

distance from splice site

6318

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

1 / 1

chromosome

strand

last intron/exon boundary

2504

theoretical NMD boundary in CDS

2453

length of CDS

2814

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)

8673

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

140222641

original gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCAAGCTGGTGCCGCGGTCTGTG

altered gDNA sequence snippet

GCACTGGTGGCGCAGCGAGCGAGCTGGTGCCGCGGTCTGTG

original cDNA sequence snippet

N/A

altered cDNA sequence snippet

N/A

wildtype AA sequence

MVCPNGYDPG GRHLLLFIII LAAWEAGRGQ LHYSVPEEAK HGNFVGRIAQ DLGLELAELV
PRLFRAVCKF RGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV ERPLQVFHVD
VEVKDINDNP PVFPATQRNL FIAESRPLDS RFPLEGASDA DIGENALLTY RLSPNEYFFL
DVPTSNQQVK PLGLVLRKLL DREETPELHL LLTATDGGKP ELTGTVQLLI TVLDNNDNAP
VFDRTLYTVK LPENVSIGTL VIHPNASDLD EGLNGDIIYS FSSDVSPDIK SKFHMDPLSG
AITVIGHMDF EESRAHKIPV EAVDKGFPPL AGHCTVLVEV VDVNDNAPQL TLTSLSLPIP
EDAQPGTVIT LISVFDRDFG VNGQVTCSLT PRVPFKLVST FKNYYSLVLD SALDRESVSA
YELVVTARDG GSPSLWATAS VSVEVADVND NAPAFAQPEY TVFVKENNPP GCHIFTVSAG
DADAQKNALV SYSLVELRVG ERALSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLAPRV GGTGGAVREL VPRSVGAGHV VAKVRAVDAD
SGYNAWLSYE LQPVAAGASI PFRVGLYTGE ISTTRALDET DAPRHRLLVL VKDHGEPSLT
ATATVLVSLV ESGQAPKASS RASLGIAGPE TELVDVNVYL IIAICAVSSL LVLTLLLYTA
LRCSAPSSEG ACSLVKPTLV CSSAVGSWSF SQQRRQRVCS GEGPPKTDLM AFSPSLPQGP
SSTDNPRQPN PDWRYSASLR AGMHSSVHLE EAGILRAGPG GPDQQWPTVS SATPEPEAGE
VSPPVGAGVN SNSWTFKYGP GNPKQSGPGE LPDKFIIPGS PAIISIRQEP TNSQIDKSDF
ITFGKKEETK KKKKKKKGNK TQEKKEKGNS TTDNSDQ*

mutated AA sequence

N/A

speed

0.79 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

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

mutation t@sting

Prediction

polymorphism

Problems