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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000241124
Querying Taster for transcript #2: ENST00000400065
Querying Taster for transcript #3: ENST00000400066
Querying Taster for transcript #4: ENST00000356192
MT speed 0 s - this script 4.019906 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
GJB6disease_causing_automatic0.999923339789493simple_aaeaffected0G11Rsingle base exchangers104894415show file
GJB6disease_causing_automatic0.999923339789493simple_aaeaffected0G11Rsingle base exchangers104894415show file
GJB6disease_causing_automatic0.999923339789493simple_aaeaffected0G11Rsingle base exchangers104894415show file
GJB6disease_causing_automatic0.999923339789493simple_aaeaffected0G11Rsingle base exchangers104894415show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999923339789493 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM002605)
  • known disease mutation at this position (HGMD CM131243)
  • known disease mutation: rs5544 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:20797589C>TN/A show variant in all transcripts   IGV
HGNC symbol GJB6
Ensembl transcript ID ENST00000241124
Genbank transcript ID NM_006783
UniProt peptide O95452
alteration type single base exchange
alteration region CDS
DNA changes c.31G>A
cDNA.329G>A
g.8946G>A
AA changes G11R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 11
frameshift no
known variant Reference ID: rs104894415
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs5544 (pathogenic for Hidrotic ectodermal dysplasia syndrome|Deafness, autosomal recessive 1A|Deafness, X-linked 2|Deafness, autosomal dominant 3b|Deafness, autosomal recessive 1b|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
known disease mutation at this position, please check HGMD for details (HGMD ID CM131243)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
known disease mutation at this position, please check HGMD for details (HGMD ID CM131243)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3770.998
2.1810.996
(flanking)-0.1380.95
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8946wt: 0.6042 / mu: 0.6431 (marginal change - not scored)wt: GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
mu: GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC		 atcg|GGGG
Donor increased8946wt: 0.82 / mu: 0.99wt: TCATCGGGGGTGTCA
mu: TCATCAGGGGTGTCA		 ATCG|gggg
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      11 MDWGTLHTFIGGVNKHSTSIGKV
mutated  not conserved    11MDWGTLHTFIRGVNKHSTSIGK
Ptroglodytes  all identical  ENSPTRG00000005683  11MDWGTLHTFIGGVNKHSTSIGK
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040055  11MDWGTLHTVIGGVNKHSTSIGK
Ggallus  all identical  ENSGALG00000017136  11MDWGALQTILGGVNKHSTSIGK
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042707  11MSWGALYAQLGGVNKHSTSLGK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000026112  11MDWGTLYEVIGGVNRHSTSIGK
protein features
start (aa)end (aa)featuredetails 
122TOPO_DOMCytoplasmic (Potential).lost
1111CONFLICTG -> E (in Ref. 9; AAV67951).lost
2345TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
4675TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
7698TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
99131TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
124124CONFLICTQ -> H (in Ref. 1; CAA06611).might get lost (downstream of altered splice site)
132154TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
155192TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
193215TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
216261TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 786 / 786
position (AA) of stopcodon in wt / mu AA sequence 262 / 262
position of stopcodon in wt / mu cDNA 1084 / 1084
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 299 / 299
chromosome 13
strand -1
last intron/exon boundary 284
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 786
coding sequence (CDS) position 31
cDNA position
(for ins/del: last normal base / first normal base)		 329
gDNA position
(for ins/del: last normal base / first normal base)		 8946
chromosomal position
(for ins/del: last normal base / first normal base)		 20797589
original gDNA sequence snippet GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
altered gDNA sequence snippet GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC
original cDNA sequence snippet GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
altered cDNA sequence snippet GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC
wildtype AA sequence MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC
KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED
IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC
FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK
QNEMNELISD SGQNAITGFP S*
mutated AA sequence MDWGTLHTFI RGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC
KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED
IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC
FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK
QNEMNELISD SGQNAITGFP S*
speed 0.99 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

disease causing

 Model: simple_aae, prob: 0.999923339789493 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM002605)
  • known disease mutation at this position (HGMD CM131243)
  • known disease mutation: rs5544 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:20797589C>TN/A show variant in all transcripts   IGV
HGNC symbol GJB6
Ensembl transcript ID ENST00000400065
Genbank transcript ID NM_001110221
UniProt peptide O95452
alteration type single base exchange
alteration region CDS
DNA changes c.31G>A
cDNA.326G>A
g.8946G>A
AA changes G11R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 11
frameshift no
known variant Reference ID: rs104894415
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs5544 (pathogenic for Hidrotic ectodermal dysplasia syndrome|Deafness, autosomal recessive 1A|Deafness, X-linked 2|Deafness, autosomal dominant 3b|Deafness, autosomal recessive 1b|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
known disease mutation at this position, please check HGMD for details (HGMD ID CM131243)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
known disease mutation at this position, please check HGMD for details (HGMD ID CM131243)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3770.998
2.1810.996
(flanking)-0.1380.95
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8946wt: 0.6042 / mu: 0.6431 (marginal change - not scored)wt: GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
mu: GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC		 atcg|GGGG
Donor increased8946wt: 0.82 / mu: 0.99wt: TCATCGGGGGTGTCA
mu: TCATCAGGGGTGTCA		 ATCG|gggg
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      11 MDWGTLHTFIGGVNKHSTSIGKV
mutated  not conserved    11MDWGTLHTFIRGVNKHSTSIGK
Ptroglodytes  all identical  ENSPTRG00000005683  11MDWGTLHTFIGGVNKHSTSIGK
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040055  11MDWGTLHTVIGGVNKHSTSIGK
Ggallus  all identical  ENSGALG00000017136  11MDWGALQTILGGVNKHSTSIGK
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042707  11MSWGALYAQLGGVNKHSTSLGK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000026112  11MDWGTLYEVIGGVNRHSTSIGK
protein features
start (aa)end (aa)featuredetails 
122TOPO_DOMCytoplasmic (Potential).lost
1111CONFLICTG -> E (in Ref. 9; AAV67951).lost
2345TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
4675TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
7698TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
99131TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
124124CONFLICTQ -> H (in Ref. 1; CAA06611).might get lost (downstream of altered splice site)
132154TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
155192TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
193215TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
216261TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 786 / 786
position (AA) of stopcodon in wt / mu AA sequence 262 / 262
position of stopcodon in wt / mu cDNA 1081 / 1081
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 296 / 296
chromosome 13
strand -1
last intron/exon boundary 281
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 786
coding sequence (CDS) position 31
cDNA position
(for ins/del: last normal base / first normal base)		 326
gDNA position
(for ins/del: last normal base / first normal base)		 8946
chromosomal position
(for ins/del: last normal base / first normal base)		 20797589
original gDNA sequence snippet GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
altered gDNA sequence snippet GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC
original cDNA sequence snippet GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
altered cDNA sequence snippet GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC
wildtype AA sequence MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC
KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED
IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC
FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK
QNEMNELISD SGQNAITGFP S*
mutated AA sequence MDWGTLHTFI RGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC
KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED
IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC
FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK
QNEMNELISD SGQNAITGFP S*
speed 0.46 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

disease causing

 Model: simple_aae, prob: 0.999923339789493 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM002605)
  • known disease mutation at this position (HGMD CM131243)
  • known disease mutation: rs5544 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:20797589C>TN/A show variant in all transcripts   IGV
HGNC symbol GJB6
Ensembl transcript ID ENST00000400066
Genbank transcript ID NM_001110220
UniProt peptide O95452
alteration type single base exchange
alteration region CDS
DNA changes c.31G>A
cDNA.448G>A
g.8946G>A
AA changes G11R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 11
frameshift no
known variant Reference ID: rs104894415
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs5544 (pathogenic for Hidrotic ectodermal dysplasia syndrome|Deafness, autosomal recessive 1A|Deafness, X-linked 2|Deafness, autosomal dominant 3b|Deafness, autosomal recessive 1b|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
known disease mutation at this position, please check HGMD for details (HGMD ID CM131243)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
known disease mutation at this position, please check HGMD for details (HGMD ID CM131243)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3770.998
2.1810.996
(flanking)-0.1380.95
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8946wt: 0.6042 / mu: 0.6431 (marginal change - not scored)wt: GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
mu: GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC		 atcg|GGGG
Donor increased8946wt: 0.82 / mu: 0.99wt: TCATCGGGGGTGTCA
mu: TCATCAGGGGTGTCA		 ATCG|gggg
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      11 MDWGTLHTFIGGVNKHSTSIGKV
mutated  not conserved    11MDWGTLHTFIRGVNKHSTSIGK
Ptroglodytes  all identical  ENSPTRG00000005683  11MDWGTLHTFIGGVNKHSTSIGK
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040055  11MDWGTLHTVIGGVNKHSTSIGK
Ggallus  all identical  ENSGALG00000017136  11MDWGALQTILGGVNKHSTSIGK
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042707  11MSWGALYAQLGGVNKHSTSLGK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000026112  11MDWGTLYEVIGGVNRHSTSIGK
protein features
start (aa)end (aa)featuredetails 
122TOPO_DOMCytoplasmic (Potential).lost
1111CONFLICTG -> E (in Ref. 9; AAV67951).lost
2345TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
4675TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
7698TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
99131TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
124124CONFLICTQ -> H (in Ref. 1; CAA06611).might get lost (downstream of altered splice site)
132154TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
155192TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
193215TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
216261TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 786 / 786
position (AA) of stopcodon in wt / mu AA sequence 262 / 262
position of stopcodon in wt / mu cDNA 1203 / 1203
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 418 / 418
chromosome 13
strand -1
last intron/exon boundary 403
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 786
coding sequence (CDS) position 31
cDNA position
(for ins/del: last normal base / first normal base)		 448
gDNA position
(for ins/del: last normal base / first normal base)		 8946
chromosomal position
(for ins/del: last normal base / first normal base)		 20797589
original gDNA sequence snippet GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
altered gDNA sequence snippet GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC
original cDNA sequence snippet GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
altered cDNA sequence snippet GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC
wildtype AA sequence MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC
KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED
IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC
FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK
QNEMNELISD SGQNAITGFP S*
mutated AA sequence MDWGTLHTFI RGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC
KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED
IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC
FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK
QNEMNELISD SGQNAITGFP S*
speed 0.46 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

disease causing

 Model: simple_aae, prob: 0.999923339789493 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM002605)
  • known disease mutation at this position (HGMD CM131243)
  • known disease mutation: rs5544 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr13:20797589C>TN/A show variant in all transcripts   IGV
HGNC symbol GJB6
Ensembl transcript ID ENST00000356192
Genbank transcript ID NM_001110219
UniProt peptide O95452
alteration type single base exchange
alteration region CDS
DNA changes c.31G>A
cDNA.652G>A
g.8946G>A
AA changes G11R Score: 125 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 11
frameshift no
known variant Reference ID: rs104894415
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs5544 (pathogenic for Hidrotic ectodermal dysplasia syndrome|Deafness, autosomal recessive 1A|Deafness, X-linked 2|Deafness, autosomal dominant 3b|Deafness, autosomal recessive 1b|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
known disease mutation at this position, please check HGMD for details (HGMD ID CM131243)

known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
known disease mutation at this position, please check HGMD for details (HGMD ID CM131243)
known disease mutation at this position, please check HGMD for details (HGMD ID CM002605)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.3770.998
2.1810.996
(flanking)-0.1380.95
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased8946wt: 0.6042 / mu: 0.6431 (marginal change - not scored)wt: GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
mu: GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC		 atcg|GGGG
Donor increased8946wt: 0.82 / mu: 0.99wt: TCATCGGGGGTGTCA
mu: TCATCAGGGGTGTCA		 ATCG|gggg
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      11 MDWGTLHTFIGGVNKHSTSIGKV
mutated  not conserved    11MDWGTLHTFIRGVNKHSTSIGK
Ptroglodytes  all identical  ENSPTRG00000005683  11MDWGTLHTFIGGVNKHSTSIGK
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000040055  11MDWGTLHTVIGGVNKHSTSIGK
Ggallus  all identical  ENSGALG00000017136  11MDWGALQTILGGVNKHSTSIGK
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000042707  11MSWGALYAQLGGVNKHSTSLGK
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000026112  11MDWGTLYEVIGGVNRHSTSIGK
protein features
start (aa)end (aa)featuredetails 
122TOPO_DOMCytoplasmic (Potential).lost
1111CONFLICTG -> E (in Ref. 9; AAV67951).lost
2345TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
4675TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
7698TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
99131TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
124124CONFLICTQ -> H (in Ref. 1; CAA06611).might get lost (downstream of altered splice site)
132154TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
155192TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
193215TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
216261TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 786 / 786
position (AA) of stopcodon in wt / mu AA sequence 262 / 262
position of stopcodon in wt / mu cDNA 1407 / 1407
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 622 / 622
chromosome 13
strand -1
last intron/exon boundary 607
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 786
coding sequence (CDS) position 31
cDNA position
(for ins/del: last normal base / first normal base)		 652
gDNA position
(for ins/del: last normal base / first normal base)		 8946
chromosomal position
(for ins/del: last normal base / first normal base)		 20797589
original gDNA sequence snippet GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
altered gDNA sequence snippet GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC
original cDNA sequence snippet GGACGCTGCACACTTTCATCGGGGGTGTCAACAAACACTCC
altered cDNA sequence snippet GGACGCTGCACACTTTCATCAGGGGTGTCAACAAACACTCC
wildtype AA sequence MDWGTLHTFI GGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC
KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED
IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC
FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK
QNEMNELISD SGQNAITGFP S*
mutated AA sequence MDWGTLHTFI RGVNKHSTSI GKVWITVIFI FRVMILVVAA QEVWGDEQED FVCNTLQPGC
KNVCYDHFFP VSHIRLWALQ LIFVSTPALL VAMHVAYYRH ETTRKFRRGE KRNDFKDIED
IKKQKVRIEG SLWWTYTSSI FFRIIFEAAF MYVFYFLYNG YHLPWVLKCG IDPCPNLVDC
FISRPTEKTV FTIFMISASV ICMLLNVAEL CYLLLKVCFR RSKRAQTQKN HPNHALKESK
QNEMNELISD SGQNAITGFP S*
speed 0.49 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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Problems