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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000497599
Querying Taster for transcript #2: ENST00000392685
Querying Taster for transcript #3: ENST00000349697
Querying Taster for transcript #4: ENST00000314235
Querying Taster for transcript #5: ENST00000485523
MT speed 4.67 s - this script 6.229451 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
KCNMB3polymorphism_automatic0.996373411381138simple_aaeaffectedA51Tsingle base exchangers7645550show file
KCNMB3polymorphism_automatic0.996373411381138simple_aaeaffectedA49Tsingle base exchangers7645550show file
KCNMB3polymorphism_automatic0.996373411381138simple_aaeaffectedA51Tsingle base exchangers7645550show file
KCNMB3polymorphism_automatic0.996373411381138simple_aaeaffectedA31Tsingle base exchangers7645550show file
KCNMB3polymorphism_automatic0.996373411381138simple_aaeaffectedA53Tsingle base exchangers7645550show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00362658861886199 (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) chr3:178968634C>TN/A show variant in all transcripts   IGV
HGNC symbol KCNMB3
Ensembl transcript ID ENST00000497599
Genbank transcript ID NM_001163677
UniProt peptide Q9NPA1
alteration type single base exchange
alteration region CDS
DNA changes c.151G>A
cDNA.443G>A
g.16157G>A
AA changes A51T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 51
frameshift no
known variant Reference ID: rs7645550
databasehomozygous (T/T)heterozygousallele carriers
1000G26910411310
ExAC77371729325030
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9481
3.2751
(flanking)0.1460.997
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 increased16159wt: 0.9733 / mu: 0.9922 (marginal change - not scored)wt: AGTGCTGGAGAGGAC
mu: AGTACTGGAGAGGAC		 TGCT|ggag
Donor increased16157wt: 0.23 / mu: 0.84wt: CCAGTGCTGGAGAGG
mu: CCAGTACTGGAGAGG		 AGTG|ctgg
Donor marginally increased16154wt: 0.5077 / mu: 0.5391 (marginal change - not scored)wt: CATCCAGTGCTGGAG
mu: CATCCAGTACTGGAG		 TCCA|gtgc
Donor increased16160wt: 0.76 / mu: 0.92wt: GTGCTGGAGAGGACC
mu: GTACTGGAGAGGACC		 GCTG|gaga
Donor gained161620.36mu: ACTGGAGAGGACCGA TGGA|gagg
distance from splice site 89
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      51PLDVHKRLPSSAGEDRAVMLGFAM
mutated  not conserved    51PLDVHKRLPSSTGEDRAVMLG
Ptroglodytes  all identical  ENSPTRG00000015643  51PLDVHKRLPSSAGEDRAVMLG
Mmulatta  all identical  ENSMMUG00000005187  53PLDVHKRLSSSAGEDRAVLLGFA
Fcatus  all identical  ENSFCAG00000011267  52LPDVHKKLPSSAGEDRALLLGFA
Mmusculus  all identical  ENSMUSG00000091091  51PLKVHPKLPSSAGEDRAMLLG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000063129  46SSVGEDRAVLLGFL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
160TOPO_DOMCytoplasmic (Potential).lost
6181TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
82207TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
131131CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
229279TOPO_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 522 / 522
position (AA) of stopcodon in wt / mu AA sequence 174 / 174
position of stopcodon in wt / mu cDNA 814 / 814
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 293 / 293
chromosome 3
strand -1
last intron/exon boundary 746
theoretical NMD boundary in CDS 403
length of CDS 522
coding sequence (CDS) position 151
cDNA position
(for ins/del: last normal base / first normal base)		 443
gDNA position
(for ins/del: last normal base / first normal base)		 16157
chromosomal position
(for ins/del: last normal base / first normal base)		 178968634
original gDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered gDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
original cDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered cDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
wildtype AA sequence MQPFSIPVQI TLQGSRRRQG RTAFPASGKK RETDYSDGDP LDVHKRLPSS AGEDRAVMLG
FAMMGFSVLM FFLLGTTILK PFMLSIQREE STCTAIHTDI MDDWLDCAFT CGVHCHGQGK
YPCLQVFVNL SHPGQKALLH YNEEAVQINP KRDVTDCRVK EKQTLTVSDE HKQ*
mutated AA sequence MQPFSIPVQI TLQGSRRRQG RTAFPASGKK RETDYSDGDP LDVHKRLPSS TGEDRAVMLG
FAMMGFSVLM FFLLGTTILK PFMLSIQREE STCTAIHTDI MDDWLDCAFT CGVHCHGQGK
YPCLQVFVNL SHPGQKALLH YNEEAVQINP KRDVTDCRVK EKQTLTVSDE HKQ*
speed 1.18 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: 0.00362658861886199 (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) chr3:178968634C>TN/A show variant in all transcripts   IGV
HGNC symbol KCNMB3
Ensembl transcript ID ENST00000392685
Genbank transcript ID NM_171830
UniProt peptide Q9NPA1
alteration type single base exchange
alteration region CDS
DNA changes c.145G>A
cDNA.785G>A
g.16157G>A
AA changes A49T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 49
frameshift no
known variant Reference ID: rs7645550
databasehomozygous (T/T)heterozygousallele carriers
1000G26910411310
ExAC77371729325030
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9481
3.2751
(flanking)0.1460.997
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 increased16159wt: 0.9733 / mu: 0.9922 (marginal change - not scored)wt: AGTGCTGGAGAGGAC
mu: AGTACTGGAGAGGAC		 TGCT|ggag
Donor increased16157wt: 0.23 / mu: 0.84wt: CCAGTGCTGGAGAGG
mu: CCAGTACTGGAGAGG		 AGTG|ctgg
Donor marginally increased16154wt: 0.5077 / mu: 0.5391 (marginal change - not scored)wt: CATCCAGTGCTGGAG
mu: CATCCAGTACTGGAG		 TCCA|gtgc
Donor increased16160wt: 0.76 / mu: 0.92wt: GTGCTGGAGAGGACC
mu: GTACTGGAGAGGACC		 GCTG|gaga
Donor gained161620.36mu: ACTGGAGAGGACCGA TGGA|gagg
distance from splice site 104
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      49PLDVHKRLPSSAGEDRAVMLGFAM
mutated  not conserved    49PLDVHKRLPSSTGEDRAVMLGFA
Ptroglodytes  all identical  ENSPTRG00000015643  51PLDVHKRLPSSAGEDRAVMLGFA
Mmulatta  all identical  ENSMMUG00000005187  53PLDVHKRLSSSAGEDRAVLLGFA
Fcatus  all identical  ENSFCAG00000011267  52LPDVHKKLPSSAGEDRALLLGFA
Mmusculus  all identical  ENSMUSG00000091091  51PLKVHPKLPSSAGEDRAMLLGVA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000063129  46SSVGEDRAVLLGFL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
160TOPO_DOMCytoplasmic (Potential).lost
6181TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
82207TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
131131CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
229279TOPO_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 828 / 828
position (AA) of stopcodon in wt / mu AA sequence 276 / 276
position of stopcodon in wt / mu cDNA 1468 / 1468
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 641 / 641
chromosome 3
strand -1
last intron/exon boundary 1088
theoretical NMD boundary in CDS 397
length of CDS 828
coding sequence (CDS) position 145
cDNA position
(for ins/del: last normal base / first normal base)		 785
gDNA position
(for ins/del: last normal base / first normal base)		 16157
chromosomal position
(for ins/del: last normal base / first normal base)		 178968634
original gDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered gDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
original cDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered cDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
wildtype AA sequence MFPLLYELTA VSPSPFPQRT AFPASGKKRE TDYSDGDPLD VHKRLPSSAG EDRAVMLGFA
MMGFSVLMFF LLGTTILKPF MLSIQREEST CTAIHTDIMD DWLDCAFTCG VHCHGQGKYP
CLQVFVNLSH PGQKALLHYN EEAVQINPKC FYTPKCHQDR NDLLNSALDI KEFFDHKNGT
PFSCFYSPAS QSEDVILIKK YDQMAIFHCL FWPSLTLLGG ALIVGMVRLT QHLSLLCEKY
STVVRDEVGG KVPYIEQHQF KLCIMRRSKG RAEKS*
mutated AA sequence MFPLLYELTA VSPSPFPQRT AFPASGKKRE TDYSDGDPLD VHKRLPSSTG EDRAVMLGFA
MMGFSVLMFF LLGTTILKPF MLSIQREEST CTAIHTDIMD DWLDCAFTCG VHCHGQGKYP
CLQVFVNLSH PGQKALLHYN EEAVQINPKC FYTPKCHQDR NDLLNSALDI KEFFDHKNGT
PFSCFYSPAS QSEDVILIKK YDQMAIFHCL FWPSLTLLGG ALIVGMVRLT QHLSLLCEKY
STVVRDEVGG KVPYIEQHQF KLCIMRRSKG RAEKS*
speed 0.50 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: 0.00362658861886199 (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) chr3:178968634C>TN/A show variant in all transcripts   IGV
HGNC symbol KCNMB3
Ensembl transcript ID ENST00000349697
Genbank transcript ID NM_171828
UniProt peptide Q9NPA1
alteration type single base exchange
alteration region CDS
DNA changes c.151G>A
cDNA.412G>A
g.16157G>A
AA changes A51T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 51
frameshift no
known variant Reference ID: rs7645550
databasehomozygous (T/T)heterozygousallele carriers
1000G26910411310
ExAC77371729325030
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9481
3.2751
(flanking)0.1460.997
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 increased16159wt: 0.9733 / mu: 0.9922 (marginal change - not scored)wt: AGTGCTGGAGAGGAC
mu: AGTACTGGAGAGGAC		 TGCT|ggag
Donor increased16157wt: 0.23 / mu: 0.84wt: CCAGTGCTGGAGAGG
mu: CCAGTACTGGAGAGG		 AGTG|ctgg
Donor marginally increased16154wt: 0.5077 / mu: 0.5391 (marginal change - not scored)wt: CATCCAGTGCTGGAG
mu: CATCCAGTACTGGAG		 TCCA|gtgc
Donor increased16160wt: 0.76 / mu: 0.92wt: GTGCTGGAGAGGACC
mu: GTACTGGAGAGGACC		 GCTG|gaga
Donor gained161620.36mu: ACTGGAGAGGACCGA TGGA|gagg
distance from splice site 89
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      51PLDVHKRLPSSAGEDRAVMLGFAM
mutated  not conserved    51PLDVHKRLPSSTGEDRAVMLG
Ptroglodytes  all identical  ENSPTRG00000015643  51PLDVHKRLPSSAGEDRAVMLG
Mmulatta  all identical  ENSMMUG00000005187  53PLDVHKRLSSSAGEDRAVLLGFA
Fcatus  all identical  ENSFCAG00000011267  52LPDVHKKLPSSAGEDRALLLGFA
Mmusculus  all identical  ENSMUSG00000091091  51PLKVHPKLPSSAGEDRAMLLG
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000063129  46SSVGEDRAVLLGFL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
160TOPO_DOMCytoplasmic (Potential).lost
6181TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
82207TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
131131CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
229279TOPO_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 834 / 834
position (AA) of stopcodon in wt / mu AA sequence 278 / 278
position of stopcodon in wt / mu cDNA 1095 / 1095
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 262 / 262
chromosome 3
strand -1
last intron/exon boundary 715
theoretical NMD boundary in CDS 403
length of CDS 834
coding sequence (CDS) position 151
cDNA position
(for ins/del: last normal base / first normal base)		 412
gDNA position
(for ins/del: last normal base / first normal base)		 16157
chromosomal position
(for ins/del: last normal base / first normal base)		 178968634
original gDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered gDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
original cDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered cDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
wildtype AA sequence MQPFSIPVQI TLQGSRRRQG RTAFPASGKK RETDYSDGDP LDVHKRLPSS AGEDRAVMLG
FAMMGFSVLM FFLLGTTILK PFMLSIQREE STCTAIHTDI MDDWLDCAFT CGVHCHGQGK
YPCLQVFVNL SHPGQKALLH YNEEAVQINP KCFYTPKCHQ DRNDLLNSAL DIKEFFDHKN
GTPFSCFYSP ASQSEDVILI KKYDQMAIFH CLFWPSLTLL GGALIVGMVR LTQHLSLLCE
KYSTVVRDEV GGKVPYIEQH QFKLCIMRRS KGRAEKS*
mutated AA sequence MQPFSIPVQI TLQGSRRRQG RTAFPASGKK RETDYSDGDP LDVHKRLPSS TGEDRAVMLG
FAMMGFSVLM FFLLGTTILK PFMLSIQREE STCTAIHTDI MDDWLDCAFT CGVHCHGQGK
YPCLQVFVNL SHPGQKALLH YNEEAVQINP KCFYTPKCHQ DRNDLLNSAL DIKEFFDHKN
GTPFSCFYSP ASQSEDVILI KKYDQMAIFH CLFWPSLTLL GGALIVGMVR LTQHLSLLCE
KYSTVVRDEV GGKVPYIEQH QFKLCIMRRS KGRAEKS*
speed 1.21 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: 0.00362658861886199 (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) chr3:178968634C>TN/A show variant in all transcripts   IGV
HGNC symbol KCNMB3
Ensembl transcript ID ENST00000485523
Genbank transcript ID N/A
UniProt peptide Q9NPA1
alteration type single base exchange
alteration region CDS
DNA changes c.91G>A
cDNA.350G>A
g.16157G>A
AA changes A31T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 31
frameshift no
known variant Reference ID: rs7645550
databasehomozygous (T/T)heterozygousallele carriers
1000G26910411310
ExAC77371729325030
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9481
3.2751
(flanking)0.1460.997
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 increased16159wt: 0.9733 / mu: 0.9922 (marginal change - not scored)wt: AGTGCTGGAGAGGAC
mu: AGTACTGGAGAGGAC		 TGCT|ggag
Donor increased16157wt: 0.23 / mu: 0.84wt: CCAGTGCTGGAGAGG
mu: CCAGTACTGGAGAGG		 AGTG|ctgg
Donor marginally increased16154wt: 0.5077 / mu: 0.5391 (marginal change - not scored)wt: CATCCAGTGCTGGAG
mu: CATCCAGTACTGGAG		 TCCA|gtgc
Donor increased16160wt: 0.76 / mu: 0.92wt: GTGCTGGAGAGGACC
mu: GTACTGGAGAGGACC		 GCTG|gaga
Donor gained161620.36mu: ACTGGAGAGGACCGA TGGA|gagg
distance from splice site 89
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      31PLDVHKRLPSSAGEDRAVMLGFAM
mutated  not conserved    31PLDVHKRLPSSTGEDRAVMLGFA
Ptroglodytes  all identical  ENSPTRG00000015643  51PLDVHKRLPSSAGEDRAVMLGFA
Mmulatta  all identical  ENSMMUG00000005187  53PLDVHKRLSSSAGEDRAVLLGFA
Fcatus  all identical  ENSFCAG00000011267  52LPDVHKKLPSSAGEDRALLLGFA
Mmusculus  all identical  ENSMUSG00000091091  51PLKVHPKLPSSAGEDRAMLLGVA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000063129  46SSVGEDRAVLLGFL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
160TOPO_DOMCytoplasmic (Potential).lost
6181TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
82207TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
131131CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
229279TOPO_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 774 / 774
position (AA) of stopcodon in wt / mu AA sequence 258 / 258
position of stopcodon in wt / mu cDNA 1033 / 1033
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 260 / 260
chromosome 3
strand -1
last intron/exon boundary 653
theoretical NMD boundary in CDS 343
length of CDS 774
coding sequence (CDS) position 91
cDNA position
(for ins/del: last normal base / first normal base)		 350
gDNA position
(for ins/del: last normal base / first normal base)		 16157
chromosomal position
(for ins/del: last normal base / first normal base)		 178968634
original gDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered gDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
original cDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered cDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
wildtype AA sequence MTAFPASGKK RETDYSDGDP LDVHKRLPSS AGEDRAVMLG FAMMGFSVLM FFLLGTTILK
PFMLSIQREE STCTAIHTDI MDDWLDCAFT CGVHCHGQGK YPCLQVFVNL SHPGQKALLH
YNEEAVQINP KCFYTPKCHQ DRNDLLNSAL DIKEFFDHKN GTPFSCFYSP ASQSEDVILI
KKYDQMAIFH CLFWPSLTLL GGALIVGMVR LTQHLSLLCE KYSTVVRDEV GGKVPYIEQH
QFKLCIMRRS KGRAEKS*
mutated AA sequence MTAFPASGKK RETDYSDGDP LDVHKRLPSS TGEDRAVMLG FAMMGFSVLM FFLLGTTILK
PFMLSIQREE STCTAIHTDI MDDWLDCAFT CGVHCHGQGK YPCLQVFVNL SHPGQKALLH
YNEEAVQINP KCFYTPKCHQ DRNDLLNSAL DIKEFFDHKN GTPFSCFYSP ASQSEDVILI
KKYDQMAIFH CLFWPSLTLL GGALIVGMVR LTQHLSLLCE KYSTVVRDEV GGKVPYIEQH
QFKLCIMRRS KGRAEKS*
speed 0.52 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: simple_aae, prob: 0.00362658861886199 (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) chr3:178968634C>TN/A show variant in all transcripts   IGV
HGNC symbol KCNMB3
Ensembl transcript ID ENST00000314235
Genbank transcript ID NM_014407
UniProt peptide Q9NPA1
alteration type single base exchange
alteration region CDS
DNA changes c.157G>A
cDNA.669G>A
g.16157G>A
AA changes A53T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 53
frameshift no
known variant Reference ID: rs7645550
databasehomozygous (T/T)heterozygousallele carriers
1000G26910411310
ExAC77371729325030
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)4.9481
3.2751
(flanking)0.1460.997
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 increased16159wt: 0.9733 / mu: 0.9922 (marginal change - not scored)wt: AGTGCTGGAGAGGAC
mu: AGTACTGGAGAGGAC		 TGCT|ggag
Donor increased16157wt: 0.23 / mu: 0.84wt: CCAGTGCTGGAGAGG
mu: CCAGTACTGGAGAGG		 AGTG|ctgg
Donor marginally increased16154wt: 0.5077 / mu: 0.5391 (marginal change - not scored)wt: CATCCAGTGCTGGAG
mu: CATCCAGTACTGGAG		 TCCA|gtgc
Donor increased16160wt: 0.76 / mu: 0.92wt: GTGCTGGAGAGGACC
mu: GTACTGGAGAGGACC		 GCTG|gaga
Donor gained161620.36mu: ACTGGAGAGGACCGA TGGA|gagg
distance from splice site 89
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      53PLDVHKRLPSSAGEDRAVMLGFAM
mutated  not conserved    53PLDVHKRLPSSTGEDRAVM
Ptroglodytes  all identical  ENSPTRG00000015643  51PLDVHKRLPSSAGEDRAVMLGFA
Mmulatta  all identical  ENSMMUG00000005187  53PLDVHKRLSSSAGEDRAVL
Fcatus  all identical  ENSFCAG00000011267  53LPDVHKKLPSSAGEDRALL
Mmusculus  all identical  ENSMUSG00000091091  51PLKVHPKLPSSAGEDRAMLLGVA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000063129  46SSVGEDRAVLLGFL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
160TOPO_DOMCytoplasmic (Potential).lost
6181TRANSMEMHelical; Name=1; (Potential).might get lost (downstream of altered splice site)
82207TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
131131CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; Name=2; (Potential).might get lost (downstream of altered splice site)
229279TOPO_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 840 / 840
position (AA) of stopcodon in wt / mu AA sequence 280 / 280
position of stopcodon in wt / mu cDNA 1352 / 1352
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 513 / 513
chromosome 3
strand -1
last intron/exon boundary 972
theoretical NMD boundary in CDS 409
length of CDS 840
coding sequence (CDS) position 157
cDNA position
(for ins/del: last normal base / first normal base)		 669
gDNA position
(for ins/del: last normal base / first normal base)		 16157
chromosomal position
(for ins/del: last normal base / first normal base)		 178968634
original gDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered gDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
original cDNA sequence snippet ACAAGAGGCTGCCATCCAGTGCTGGAGAGGACCGAGCCGTG
altered cDNA sequence snippet ACAAGAGGCTGCCATCCAGTACTGGAGAGGACCGAGCCGTG
wildtype AA sequence MDFSPSSELG FHFVAFILLT RHRTAFPASG KKRETDYSDG DPLDVHKRLP SSAGEDRAVM
LGFAMMGFSV LMFFLLGTTI LKPFMLSIQR EESTCTAIHT DIMDDWLDCA FTCGVHCHGQ
GKYPCLQVFV NLSHPGQKAL LHYNEEAVQI NPKCFYTPKC HQDRNDLLNS ALDIKEFFDH
KNGTPFSCFY SPASQSEDVI LIKKYDQMAI FHCLFWPSLT LLGGALIVGM VRLTQHLSLL
CEKYSTVVRD EVGGKVPYIE QHQFKLCIMR RSKGRAEKS*
mutated AA sequence MDFSPSSELG FHFVAFILLT RHRTAFPASG KKRETDYSDG DPLDVHKRLP SSTGEDRAVM
LGFAMMGFSV LMFFLLGTTI LKPFMLSIQR EESTCTAIHT DIMDDWLDCA FTCGVHCHGQ
GKYPCLQVFV NLSHPGQKAL LHYNEEAVQI NPKCFYTPKC HQDRNDLLNS ALDIKEFFDH
KNGTPFSCFY SPASQSEDVI LIKKYDQMAI FHCLFWPSLT LLGGALIVGM VRLTQHLSLL
CEKYSTVVRD EVGGKVPYIE QHQFKLCIMR RSKGRAEKS*
speed 1.26 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