Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
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 14 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: ENST00000532602
Querying Taster for transcript #14: ENST00000378122
MT speed 0 s - this script 7.028676 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PCDHA9polymorphism_automatic1.26010313294955e-13simple_aaeaffectedK764Qsingle base exchangers369636show file
PCDHA9polymorphism_automatic1.26010313294955e-13simple_aaeaffectedK764Qsingle base exchangers369636show file
PCDHA1polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA1polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA2polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA4polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA3polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA5polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA4polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA5polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA6polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA6polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA8polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file
PCDHA7polymorphism_automatic7.61015870320847e-08without_aaeaffectedsingle base exchangers369636show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999874 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA9
Ensembl transcript ID ENST00000532602
Genbank transcript ID NM_031857
UniProt peptide Q9Y5H5
alteration type single base exchange
alteration region CDS
DNA changes c.2290A>C
cDNA.3323A>C
g.3323A>C
AA changes K764Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 764
frameshift no
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased3314wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
Donor marginally increased3324wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased3327wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
distance from splice site 105
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      764QRRQRVCSGEGKQKTDLMAFSPGL
mutated  all conserved    764QRRQRVCSGEGQQKTDLMAFSPG
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  not conserved  ENSXETG00000032691  755QRQYKVHLNGTPLKNDLILFTPN
protein features
start (aa)end (aa)featuredetails 
719950TOPO_DOMCytoplasmic (Potential).lost
734894REGION5 X 4 AA repeats of P-X-X-P.lost
799802REPEATPXXP 2.might get lost (downstream of altered splice site)
832835REPEATPXXP 3.might get lost (downstream of altered splice site)
873876REPEATPXXP 4.might get lost (downstream of altered splice site)
891894REPEATPXXP 5.might get lost (downstream of altered splice site)
923930COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 3886 / 3886
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 1034 / 1034
chromosome 5
strand 1
last intron/exon boundary 3576
theoretical NMD boundary in CDS 2492
length of CDS 2853
coding sequence (CDS) position 2290
cDNA position
(for ins/del: last normal base / first normal base)		 3323
gDNA position
(for ins/del: last normal base / first normal base)		 3323
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
original cDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered cDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
wildtype AA sequence MLYSSRGDPE GQPLLLSLLI LAMWVVGSGQ LHYSVPEEAE HGTFVGRIAQ DLGLELAELV
PRLFQLDSKG RGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDINDNP PVFPATQKNL FIAESRPLDS RFPLEGASDA DIGENALLTY RLSPNEYFFL
DVPTSNQQVK PLGLVLRKLL DREETPELHL LLTATDGGKP ELTGTVQLLI TVLDNNDNAP
VFDRTLYTVK LPENVSIGTL VIHPNASDLD EGLNGDIIYS FSSDVSPDIK SKFHMDPLSG
AITVIGHMDF EESRAHKIPV EAVDKGFPPL AGHCTLLVEV VDVNDNAPQL TIKTLSVPVK
EDAQLGTVIA LISVIDLDAD ANGQVTCSLT PHVPFKLVST YKNYYSLVLD RALDRESVSA
YELVVTARDG GSPSLWATAR VSVEVADVND NAPAFAQSEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRLG ERSLSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLTPRM RGTDGAVSEM VLRSVGAGVV VGKVRAVDAD
SGYNAWLSYE LQPETASASI PFRVGLYTGE ISTTRALDET DAPRQRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKSSS RASVGATGPE VTLVDVNVYL IIAICAVSSL LVLTLLLYTV
LRCSAMPTEG ECAPGKPTLV CSSAVGSWSY SQQRRQRVCS GEGKQKTDLM AFSPGLSPCA
GSTERTGEPS ASSDSTGKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ *
mutated AA sequence MLYSSRGDPE GQPLLLSLLI LAMWVVGSGQ LHYSVPEEAE HGTFVGRIAQ DLGLELAELV
PRLFQLDSKG RGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDINDNP PVFPATQKNL FIAESRPLDS RFPLEGASDA DIGENALLTY RLSPNEYFFL
DVPTSNQQVK PLGLVLRKLL DREETPELHL LLTATDGGKP ELTGTVQLLI TVLDNNDNAP
VFDRTLYTVK LPENVSIGTL VIHPNASDLD EGLNGDIIYS FSSDVSPDIK SKFHMDPLSG
AITVIGHMDF EESRAHKIPV EAVDKGFPPL AGHCTLLVEV VDVNDNAPQL TIKTLSVPVK
EDAQLGTVIA LISVIDLDAD ANGQVTCSLT PHVPFKLVST YKNYYSLVLD RALDRESVSA
YELVVTARDG GSPSLWATAR VSVEVADVND NAPAFAQSEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRLG ERSLSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLTPRM RGTDGAVSEM VLRSVGAGVV VGKVRAVDAD
SGYNAWLSYE LQPETASASI PFRVGLYTGE ISTTRALDET DAPRQRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKSSS RASVGATGPE VTLVDVNVYL IIAICAVSSL LVLTLLLYTV
LRCSAMPTEG ECAPGKPTLV CSSAVGSWSY SQQRRQRVCS GEGQQKTDLM AFSPGLSPCA
GSTERTGEPS ASSDSTGKPR QPNPDWRYSA SLRAGMHSSV HLEEAGILRA GPGGPDQQWP
TVSSATPEPE AGEVSPPVGA GVNSNSWTFK YGPGNPKQSG PGELPDKFII PGSPAIISIR
QEPTNSQIDK SDFITFGKKE ETKKKKKKKK GNKTQEKKEK GNSTTDNSDQ *
speed 0.75 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999874 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA9
Ensembl transcript ID ENST00000378122
Genbank transcript ID NM_014005
UniProt peptide Q9Y5H5
alteration type single base exchange
alteration region CDS
DNA changes c.2290A>C
cDNA.3014A>C
g.3323A>C
AA changes K764Q Score: 53 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 764
frameshift no
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased3314wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
Donor marginally increased3324wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased3327wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
distance from splice site 3014
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      764QRRQRVCSGEGKQKTDLMAFSPGL
mutated  all conserved    764QRRQRVCSGEGQQKTDLMAFSPG
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  not conserved  ENSXETG00000032691  755QRQYKVHLNGTPLKNDLILFTPN
protein features
start (aa)end (aa)featuredetails 
719950TOPO_DOMCytoplasmic (Potential).lost
734894REGION5 X 4 AA repeats of P-X-X-P.lost
799802REPEATPXXP 2.might get lost (downstream of altered splice site)
832835REPEATPXXP 3.might get lost (downstream of altered splice site)
873876REPEATPXXP 4.might get lost (downstream of altered splice site)
891894REPEATPXXP 5.might get lost (downstream of altered splice site)
923930COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2529 / 2529
position (AA) of stopcodon in wt / mu AA sequence 843 / 843
position of stopcodon in wt / mu cDNA 3253 / 3253
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 725 / 725
chromosome 5
strand 1
last intron/exon boundary 1
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 2529
coding sequence (CDS) position 2290
cDNA position
(for ins/del: last normal base / first normal base)		 3014
gDNA position
(for ins/del: last normal base / first normal base)		 3323
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
original cDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered cDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
wildtype AA sequence MLYSSRGDPE GQPLLLSLLI LAMWVVGSGQ LHYSVPEEAE HGTFVGRIAQ DLGLELAELV
PRLFQLDSKG RGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDINDNP PVFPATQKNL FIAESRPLDS RFPLEGASDA DIGENALLTY RLSPNEYFFL
DVPTSNQQVK PLGLVLRKLL DREETPELHL LLTATDGGKP ELTGTVQLLI TVLDNNDNAP
VFDRTLYTVK LPENVSIGTL VIHPNASDLD EGLNGDIIYS FSSDVSPDIK SKFHMDPLSG
AITVIGHMDF EESRAHKIPV EAVDKGFPPL AGHCTLLVEV VDVNDNAPQL TIKTLSVPVK
EDAQLGTVIA LISVIDLDAD ANGQVTCSLT PHVPFKLVST YKNYYSLVLD RALDRESVSA
YELVVTARDG GSPSLWATAR VSVEVADVND NAPAFAQSEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRLG ERSLSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLTPRM RGTDGAVSEM VLRSVGAGVV VGKVRAVDAD
SGYNAWLSYE LQPETASASI PFRVGLYTGE ISTTRALDET DAPRQRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKSSS RASVGATGPE VTLVDVNVYL IIAICAVSSL LVLTLLLYTV
LRCSAMPTEG ECAPGKPTLV CSSAVGSWSY SQQRRQRVCS GEGKQKTDLM AFSPGLSPCA
GSTERTGEPS ASSDSTGKVG FSSILFIYII FFLERYYRLL PGAVQIVLFI FLEIQQIFFL
IK*
mutated AA sequence MLYSSRGDPE GQPLLLSLLI LAMWVVGSGQ LHYSVPEEAE HGTFVGRIAQ DLGLELAELV
PRLFQLDSKG RGDLLEVNLQ NGILFVNSRI DREELCGRSA ECSIHLEVIV DRPLQVFHVD
VEVKDINDNP PVFPATQKNL FIAESRPLDS RFPLEGASDA DIGENALLTY RLSPNEYFFL
DVPTSNQQVK PLGLVLRKLL DREETPELHL LLTATDGGKP ELTGTVQLLI TVLDNNDNAP
VFDRTLYTVK LPENVSIGTL VIHPNASDLD EGLNGDIIYS FSSDVSPDIK SKFHMDPLSG
AITVIGHMDF EESRAHKIPV EAVDKGFPPL AGHCTLLVEV VDVNDNAPQL TIKTLSVPVK
EDAQLGTVIA LISVIDLDAD ANGQVTCSLT PHVPFKLVST YKNYYSLVLD RALDRESVSA
YELVVTARDG GSPSLWATAR VSVEVADVND NAPAFAQSEY TVFVKENNPP GCHIFTVSAR
DADAQENALV SYSLVERRLG ERSLSSYVSV HAESGKVYAL QPLDHEELEL LQFQVSARDA
GVPPLGSNVT LQVFVLDEND NAPALLTPRM RGTDGAVSEM VLRSVGAGVV VGKVRAVDAD
SGYNAWLSYE LQPETASASI PFRVGLYTGE ISTTRALDET DAPRQRLLVL VKDHGEPALT
ATATVLVSLV ESGQAPKSSS RASVGATGPE VTLVDVNVYL IIAICAVSSL LVLTLLLYTV
LRCSAMPTEG ECAPGKPTLV CSSAVGSWSY SQQRRQRVCS GEGQQKTDLM AFSPGLSPCA
GSTERTGEPS ASSDSTGKVG FSSILFIYII FFLERYYRLL PGAVQIVLFI FLEIQQIFFL
IK*
speed 0.81 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA1
Ensembl transcript ID ENST00000504120
Genbank transcript ID NM_018900
UniProt peptide Q9Y5I3
alteration type single base exchange
alteration region intron
DNA changes g.64495A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased64496wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased64499wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
Donor increased64486wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
distance from splice site 62101
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
719950TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
734894REGION5 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
799802REPEATPXXP 2.might get lost (downstream of altered splice site)
832835REPEATPXXP 3.might get lost (downstream of altered splice site)
873876REPEATPXXP 4.might get lost (downstream of altered splice site)
891894REPEATPXXP 5.might get lost (downstream of altered splice site)
923930COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 64495
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 0.63 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA1
Ensembl transcript ID ENST00000394633
Genbank transcript ID NM_031411
UniProt peptide Q9Y5I3
alteration type single base exchange
alteration region intron
DNA changes g.64495A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased64496wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased64499wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
Donor increased64486wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
distance from splice site 62893
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
30697TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
456565DOMAINCadherin 5.might get lost (downstream of altered splice site)
548548CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
588678DOMAINCadherin 6.might get lost (downstream of altered splice site)
698718TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
719950TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
734737REPEATPXXP 1.might get lost (downstream of altered splice site)
734894REGION5 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
799802REPEATPXXP 2.might get lost (downstream of altered splice site)
832835REPEATPXXP 3.might get lost (downstream of altered splice site)
873876REPEATPXXP 4.might get lost (downstream of altered splice site)
891894REPEATPXXP 5.might get lost (downstream of altered splice site)
923930COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 64495
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 0.73 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA2
Ensembl transcript ID ENST00000526136
Genbank transcript ID NM_018905
UniProt peptide Q9Y5H9
alteration type single base exchange
alteration region intron
DNA changes g.55927A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased55928wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased55931wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
Donor increased55918wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
distance from splice site 53433
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
719948TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
734892REGION5 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
797800REPEATPXXP 2.might get lost (downstream of altered splice site)
830833REPEATPXXP 3.might get lost (downstream of altered splice site)
871874REPEATPXXP 4.might get lost (downstream of altered splice site)
889892REPEATPXXP 5.might get lost (downstream of altered splice site)
921928COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 55927
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 0.62 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA4
Ensembl transcript ID ENST00000512229
Genbank transcript ID N/A
UniProt peptide Q9UN74
alteration type single base exchange
alteration region intron
DNA changes g.43712A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased43713wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased43703wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
Donor increased43716wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
distance from splice site 41213
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
719947TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
734891REGION6 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
796799REPEATPXXP 3.might get lost (downstream of altered splice site)
829832REPEATPXXP 4.might get lost (downstream of altered splice site)
870873REPEATPXXP 5.might get lost (downstream of altered splice site)
888891REPEATPXXP 6.might get lost (downstream of altered splice site)
920927COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 43712
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 0.67 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA3
Ensembl transcript ID ENST00000522353
Genbank transcript ID NM_018906
UniProt peptide Q9Y5H8
alteration type single base exchange
alteration region intron
DNA changes g.49588A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased49579wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
Donor marginally increased49589wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased49592wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
distance from splice site 47194
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
719950TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
734894REGION6 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
799802REPEATPXXP 3.might get lost (downstream of altered splice site)
832835REPEATPXXP 4.might get lost (downstream of altered splice site)
873876REPEATPXXP 5.might get lost (downstream of altered splice site)
891894REPEATPXXP 6.might get lost (downstream of altered splice site)
923930COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 49588
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 0.62 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA5
Ensembl transcript ID ENST00000529619
Genbank transcript ID N/A
UniProt peptide Q9Y5H7
alteration type single base exchange
alteration region intron
DNA changes g.29149A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased29150wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased29140wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
Donor increased29153wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
distance from splice site 26658
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
718936TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
773890REGION5 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
785788REPEATPXXP 2.might get lost (downstream of altered splice site)
818821REPEATPXXP 3.might get lost (downstream of altered splice site)
873876REPEATPXXP 4.might get lost (downstream of altered splice site)
877890REPEATPXXP 5.might get lost (downstream of altered splice site)
909916COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 29149
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 0.67 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA4
Ensembl transcript ID ENST00000530339
Genbank transcript ID NM_018907
UniProt peptide Q9UN74
alteration type single base exchange
alteration region intron
DNA changes g.43712A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased43713wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased43703wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
Donor increased43716wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
distance from splice site 41213
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
719947TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
734891REGION6 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
796799REPEATPXXP 3.might get lost (downstream of altered splice site)
829832REPEATPXXP 4.might get lost (downstream of altered splice site)
870873REPEATPXXP 5.might get lost (downstream of altered splice site)
888891REPEATPXXP 6.might get lost (downstream of altered splice site)
920927COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 43712
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 GNPKQSGPGE LPDKFIIPGS PAIISIRQEP
TNSQIDKSDF ITFGKKEETK KKKKKKKGNK TQEKKEKGNS TTDNSDQ*
mutated AA sequence N/A
speed 0.67 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA5
Ensembl transcript ID ENST00000529859
Genbank transcript ID NM_018908
UniProt peptide Q9Y5H7
alteration type single base exchange
alteration region intron
DNA changes g.29149A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased29150wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased29140wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
Donor increased29153wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
distance from splice site 26658
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
718936TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
773890REGION5 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
785788REPEATPXXP 2.might get lost (downstream of altered splice site)
818821REPEATPXXP 3.might get lost (downstream of altered splice site)
873876REPEATPXXP 4.might get lost (downstream of altered splice site)
877890REPEATPXXP 5.might get lost (downstream of altered splice site)
909916COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 29149
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 NPKQSGPGEL PDKFIIPGSP AIISIRQEPT NSQIDKSDFI
TFGKKEETKK KKKKKKGNKT QEKKEKGNST TDNSDQ*
mutated AA sequence N/A
speed 0.68 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA6
Ensembl transcript ID ENST00000529310
Genbank transcript ID NM_018909
UniProt peptide Q9UN73
alteration type single base exchange
alteration region intron
DNA changes g.22808A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased22809wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased22812wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
Donor increased22799wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
distance from splice site 20300
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
719950TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
799802REPEATPXXP 1.might get lost (downstream of altered splice site)
799894REGION4 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
832835REPEATPXXP 2.might get lost (downstream of altered splice site)
873876REPEATPXXP 3.might get lost (downstream of altered splice site)
891894REPEATPXXP 4.might get lost (downstream of altered splice site)
923930COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 22808
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 0.66 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA6
Ensembl transcript ID ENST00000527624
Genbank transcript ID NM_031849
UniProt peptide Q9UN73
alteration type single base exchange
alteration region intron
DNA changes g.22808A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased22809wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased22812wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
Donor increased22799wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
distance from splice site 21092
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
30697TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
456565DOMAINCadherin 5.might get lost (downstream of altered splice site)
548548CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
581678DOMAINCadherin 6.might get lost (downstream of altered splice site)
698718TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
719950TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
799802REPEATPXXP 1.might get lost (downstream of altered splice site)
799894REGION4 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
832835REPEATPXXP 2.might get lost (downstream of altered splice site)
873876REPEATPXXP 3.might get lost (downstream of altered splice site)
891894REPEATPXXP 4.might get lost (downstream of altered splice site)
923930COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 22808
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 0.66 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
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/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 intron
DNA changes g.9464A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased9455wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
Donor increased9468wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
Donor marginally increased9465wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
distance from splice site 7070
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
719950TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
774894REGION5 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
799802REPEATPXXP 2.might get lost (downstream of altered splice site)
832835REPEATPXXP 3.might get lost (downstream of altered splice site)
873876REPEATPXXP 4.might get lost (downstream of altered splice site)
891894REPEATPXXP 5.might get lost (downstream of altered splice site)
923930COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 9464
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
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 N/A
speed 0.71 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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999923898413 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:140230370A>CN/A show variant in all transcripts   IGV
HGNC symbol PCDHA7
Ensembl transcript ID ENST00000525929
Genbank transcript ID NM_018910
UniProt peptide Q9UN72
alteration type single base exchange
alteration region intron
DNA changes g.16402A>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs369636
databasehomozygous (C/C)heterozygousallele carriers
1000G10709962066
ExAC25467-181677300
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.740.001
-0.6730
(flanking)-0.0210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased16393wt: 0.52 / mu: 0.77wt: GCTCTGGCGAGGGTA
mu: GCTCTGGCGAGGGTC		 TCTG|gcga
Donor marginally increased16403wt: 0.8948 / mu: 0.9022 (marginal change - not scored)wt: GGGTAAGCAGAAGAC
mu: GGGTCAGCAGAAGAC		 GTAA|gcag
Donor increased16406wt: 0.26 / mu: 0.56wt: TAAGCAGAAGACCGA
mu: TCAGCAGAAGACCGA		 AGCA|gaag
distance from splice site 14047
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
719937TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
774881REGION5 X 4 AA repeats of P-X-X-P.might get lost (downstream of altered splice site)
786789REPEATPXXP 2.might get lost (downstream of altered splice site)
819822REPEATPXXP 3.might get lost (downstream of altered splice site)
860863REPEATPXXP 4.might get lost (downstream of altered splice site)
878881REPEATPXXP 5.might get lost (downstream of altered splice site)
910917COMPBIASPoly-Lys.might get lost (downstream of altered splice site)
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 5
strand 1
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)		 16402
chromosomal position
(for ins/del: last normal base / first normal base)		 140230370
original gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTAAGCAGAAGACCGACCTCATG
altered gDNA sequence snippet GGGTGTGCTCTGGCGAGGGTCAGCAGAAGACCGACCTCATG
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 0.62 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

Problems