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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000558401
Querying Taster for transcript #2: ENST00000559916
Querying Taster for transcript #3: ENST00000544417
MT speed 0 s - this script 4.470783 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
B2Mpolymorphism1.81898940354586e-12simple_aaeaffectedA11Psingle base exchangers104894481show file
B2Mpolymorphism1.81898940354586e-12simple_aaeaffectedA11Psingle base exchangers104894481show file
B2Mpolymorphism1.81898940354586e-12simple_aaeaffectedA11Psingle base exchangers104894481show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998181      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM060840)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:45003775G>CN/A show variant in all transcripts   IGV
HGNC symbol B2M
Ensembl transcript ID ENST00000558401
Genbank transcript ID NM_004048
UniProt peptide P61769
alteration type single base exchange
alteration region CDS
DNA changes c.31G>C
cDNA.101G>C
g.101G>C
AA changes A11P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 11
frameshift no
known variant Reference ID: rs104894481
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM060840)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060840)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060840)
regulatory features Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding
CBP, Transcription Factor, CBP Transcription Factor Binding
CTCF, Transcription Factor, CCCTC-binding factor
Cfos, Transcription Factor, Cfos TF binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
GTF2B, Transcription Factor, GTF2B Transcription Factor Binding
H2AK9ac, Histone, Histone 2A Lysine 9 Acetylation
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36ac, Histone, Histone 3 Lysine 36 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K12ac, Histone, Histone 4 Lysine 12 Acetylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
MOF, Transcription Factor, MOF Transcription Factor Binding
Max, Transcription Factor, Max TF binding
NELFe, Transcription Factor, NELFe Transcription Factor Binding
NFKB, Transcription Factor, NFKB Transcription Factor Binding
Nrsf, Transcription Factor, Nrsf TF binding
PCAF, Transcription Factor, PCAF Transcription Factor Binding
POU2F2, Transcription Factor, POU2F2 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
SP1, Transcription Factor, SP1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding
Tip60, Transcription Factor, Tip60 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
p300, Transcription Factor, p300 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.680
1.0410.002
(flanking)-1.6430
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 increased102wt: 0.5347 / mu: 0.5848 (marginal change - not scored)wt: CGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTTTCTGGCC
mu: CGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGCC		 tcgc|GCTA
Acc marginally increased92wt: 0.6464 / mu: 0.6574 (marginal change - not scored)wt: TGTCTCGCTCCGTGGCCTTAGCTGTGCTCGCGCTACTCTCT
mu: TGTCTCGCTCCGTGGCCTTAGCTGTGCTCCCGCTACTCTCT		 ttag|CTGT
Acc marginally increased95wt: 0.2700 / mu: 0.3228 (marginal change - not scored)wt: CTCGCTCCGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTT
mu: CTCGCTCCGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTT		 gctg|TGCT
Acc gained1060.47mu: GCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGCCTGGA gcta|CTCT
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      11 MSRSVALAVLALLSLSGLEAIQR
mutated  not conserved    11MSRSVALAVLPLLSLSGLEAIQ
Ptroglodytes  all identical  ENSPTRG00000007020  11MSRSVALAVLALLSLSGLEAIQ
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000012230  11MARFVVLVLLGLLYLSHLDAVQ
Mmusculus  not conserved  ENSMUSG00000060802  11MARSVTLVFLVLVSLTGLYAIQ
Ggallus  not conserved  ENSGALG00000002160  11MGKAAAVVLVTLVALLGLAQAD
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000071168  33ILAYTRVMGNGSID
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000033246  7LSLGLVLALTLAESNI
protein features
start (aa)end (aa)featuredetails 
120SIGNALlost
2020CONFLICTA -> G (in Ref. 1; AAA51811).might get lost (downstream of altered splice site)
2121CARBOHYDN-linked (Glc) (glycation); in hemodialysis-associated amyloidosis.might get lost (downstream of altered splice site)
2222MOD_RESPyrrolidone carboxylic acid; in form pI 5.3.might get lost (downstream of altered splice site)
25113DOMAINIg-like C1-type.might get lost (downstream of altered splice site)
2633STRANDmight get lost (downstream of altered splice site)
3537HELIXmight get lost (downstream of altered splice site)
3939CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
4153STRANDmight get lost (downstream of altered splice site)
4545DISULFIDmight get lost (downstream of altered splice site)
5252CONFLICTP -> Q (in Ref. 1; AAA51811).might get lost (downstream of altered splice site)
5661STRANDmight get lost (downstream of altered splice site)
6161CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
6466STRANDmight get lost (downstream of altered splice site)
6868CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
7178STRANDmight get lost (downstream of altered splice site)
7878CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
7979MUTAGEND->P: Increases tendency towards amyloid formation.might get lost (downstream of altered splice site)
8080MUTAGENW->V: Increases tendency towards amyloid formation.might get lost (downstream of altered splice site)
8080MUTAGENW->G: Decreases tendency towards amyloid formation.might get lost (downstream of altered splice site)
8290STRANDmight get lost (downstream of altered splice site)
98103STRANDmight get lost (downstream of altered splice site)
100100DISULFIDmight get lost (downstream of altered splice site)
107109STRANDmight get lost (downstream of altered splice site)
111111CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
111114STRANDmight get lost (downstream of altered splice site)
114114CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
117119HELIXmight get lost (downstream of altered splice site)
119119CONFLICTM -> I (in Ref. 7; CAG33347).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 360 / 360
position (AA) of stopcodon in wt / mu AA sequence 120 / 120
position of stopcodon in wt / mu cDNA 430 / 430
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 71 / 71
chromosome 15
strand 1
last intron/exon boundary 445
theoretical NMD boundary in CDS 324
length of CDS 360
coding sequence (CDS) position 31
cDNA position
(for ins/del: last normal base / first normal base)		 101
gDNA position
(for ins/del: last normal base / first normal base)		 101
chromosomal position
(for ins/del: last normal base / first normal base)		 45003775
original gDNA sequence snippet CCGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTTTCTGGC
altered gDNA sequence snippet CCGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGC
original cDNA sequence snippet CCGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTTTCTGGC
altered cDNA sequence snippet CCGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGC
wildtype AA sequence MSRSVALAVL ALLSLSGLEA IQRTPKIQVY SRHPAENGKS NFLNCYVSGF HPSDIEVDLL
KNGERIEKVE HSDLSFSKDW SFYLLYYTEF TPTEKDEYAC RVNHVTLSQP KIVKWDRDM*
mutated AA sequence MSRSVALAVL PLLSLSGLEA IQRTPKIQVY SRHPAENGKS NFLNCYVSGF HPSDIEVDLL
KNGERIEKVE HSDLSFSKDW SFYLLYYTEF TPTEKDEYAC RVNHVTLSQP KIVKWDRDM*
speed 1.25 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: 0.999999999998181      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM060840)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:45003775G>CN/A show variant in all transcripts   IGV
HGNC symbol B2M
Ensembl transcript ID ENST00000559916
Genbank transcript ID N/A
UniProt peptide P61769
alteration type single base exchange
alteration region CDS
DNA changes c.31G>C
cDNA.65G>C
g.101G>C
AA changes A11P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 11
frameshift no
known variant Reference ID: rs104894481
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM060840)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060840)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060840)
regulatory features Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding
CBP, Transcription Factor, CBP Transcription Factor Binding
CTCF, Transcription Factor, CCCTC-binding factor
Cfos, Transcription Factor, Cfos TF binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
GTF2B, Transcription Factor, GTF2B Transcription Factor Binding
H2AK9ac, Histone, Histone 2A Lysine 9 Acetylation
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36ac, Histone, Histone 3 Lysine 36 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K12ac, Histone, Histone 4 Lysine 12 Acetylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
MOF, Transcription Factor, MOF Transcription Factor Binding
Max, Transcription Factor, Max TF binding
NELFe, Transcription Factor, NELFe Transcription Factor Binding
NFKB, Transcription Factor, NFKB Transcription Factor Binding
Nrsf, Transcription Factor, Nrsf TF binding
PCAF, Transcription Factor, PCAF Transcription Factor Binding
POU2F2, Transcription Factor, POU2F2 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
SP1, Transcription Factor, SP1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding
Tip60, Transcription Factor, Tip60 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
p300, Transcription Factor, p300 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.680
1.0410.002
(flanking)-1.6430
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 increased102wt: 0.5347 / mu: 0.5848 (marginal change - not scored)wt: CGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTTTCTGGCC
mu: CGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGCC		 tcgc|GCTA
Acc marginally increased92wt: 0.6464 / mu: 0.6574 (marginal change - not scored)wt: TGTCTCGCTCCGTGGCCTTAGCTGTGCTCGCGCTACTCTCT
mu: TGTCTCGCTCCGTGGCCTTAGCTGTGCTCCCGCTACTCTCT		 ttag|CTGT
Acc marginally increased95wt: 0.2700 / mu: 0.3228 (marginal change - not scored)wt: CTCGCTCCGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTT
mu: CTCGCTCCGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTT		 gctg|TGCT
Acc gained1060.47mu: GCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGCCTGGA gcta|CTCT
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      11 MSRSVALAVLALLSLSGLEAIQR
mutated  not conserved    11MSRSVALAVLPLLSLSGLEAIQ
Ptroglodytes  all identical  ENSPTRG00000007020  11MSRSVALAVLALLSLSGLEAIQ
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000012230  11MARFVVLVLLGLLYLSHLDAVQ
Mmusculus  not conserved  ENSMUSG00000060802  11MARSVTLVFLVLVSLTGLYAIQ
Ggallus  not conserved  ENSGALG00000002160  11MGKAAAVVLVTLVALLGLAQAD
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000071168  33ILAYTRVMGNGSID
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000033246  7LSLGLVLALTLAESNI
protein features
start (aa)end (aa)featuredetails 
120SIGNALlost
2020CONFLICTA -> G (in Ref. 1; AAA51811).might get lost (downstream of altered splice site)
2121CARBOHYDN-linked (Glc) (glycation); in hemodialysis-associated amyloidosis.might get lost (downstream of altered splice site)
2222MOD_RESPyrrolidone carboxylic acid; in form pI 5.3.might get lost (downstream of altered splice site)
25113DOMAINIg-like C1-type.might get lost (downstream of altered splice site)
2633STRANDmight get lost (downstream of altered splice site)
3537HELIXmight get lost (downstream of altered splice site)
3939CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
4153STRANDmight get lost (downstream of altered splice site)
4545DISULFIDmight get lost (downstream of altered splice site)
5252CONFLICTP -> Q (in Ref. 1; AAA51811).might get lost (downstream of altered splice site)
5661STRANDmight get lost (downstream of altered splice site)
6161CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
6466STRANDmight get lost (downstream of altered splice site)
6868CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
7178STRANDmight get lost (downstream of altered splice site)
7878CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
7979MUTAGEND->P: Increases tendency towards amyloid formation.might get lost (downstream of altered splice site)
8080MUTAGENW->V: Increases tendency towards amyloid formation.might get lost (downstream of altered splice site)
8080MUTAGENW->G: Decreases tendency towards amyloid formation.might get lost (downstream of altered splice site)
8290STRANDmight get lost (downstream of altered splice site)
98103STRANDmight get lost (downstream of altered splice site)
100100DISULFIDmight get lost (downstream of altered splice site)
107109STRANDmight get lost (downstream of altered splice site)
111111CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
111114STRANDmight get lost (downstream of altered splice site)
114114CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
117119HELIXmight get lost (downstream of altered splice site)
119119CONFLICTM -> I (in Ref. 7; CAG33347).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 360 / 360
position (AA) of stopcodon in wt / mu AA sequence 120 / 120
position of stopcodon in wt / mu cDNA 394 / 394
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 35 / 35
chromosome 15
strand 1
last intron/exon boundary 381
theoretical NMD boundary in CDS 296
length of CDS 360
coding sequence (CDS) position 31
cDNA position
(for ins/del: last normal base / first normal base)		 65
gDNA position
(for ins/del: last normal base / first normal base)		 101
chromosomal position
(for ins/del: last normal base / first normal base)		 45003775
original gDNA sequence snippet CCGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTTTCTGGC
altered gDNA sequence snippet CCGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGC
original cDNA sequence snippet CCGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTTTCTGGC
altered cDNA sequence snippet CCGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGC
wildtype AA sequence MSRSVALAVL ALLSLSGLEA IQRTPKIQVY SRHPAENGKS NFLNCYVSGF HPSDIEVDLL
KNGERIEKVE HSDLSFSKDW SFYLLYYTEF TPTEKDEYAC RVNHVTLSQP KIVKWDRDM*
mutated AA sequence MSRSVALAVL PLLSLSGLEA IQRTPKIQVY SRHPAENGKS NFLNCYVSGF HPSDIEVDLL
KNGERIEKVE HSDLSFSKDW SFYLLYYTEF TPTEKDEYAC RVNHVTLSQP KIVKWDRDM*
speed 1.02 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: 0.999999999998181      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM060840)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:45003775G>CN/A show variant in all transcripts   IGV
HGNC symbol B2M
Ensembl transcript ID ENST00000544417
Genbank transcript ID N/A
UniProt peptide P61769
alteration type single base exchange
alteration region CDS
DNA changes c.31G>C
cDNA.61G>C
g.101G>C
AA changes A11P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 11
frameshift no
known variant Reference ID: rs104894481
Allele 'C' was neither found in ExAC nor 1000G.
known disease mutation at this position, please check HGMD for details (HGMD ID CM060840)

known disease mutation at this position, please check HGMD for details (HGMD ID CM060840)
known disease mutation at this position, please check HGMD for details (HGMD ID CM060840)
regulatory features Ap2alpha, Transcription Factor, Ap2alpha Transcription Factor Binding
Ap2gamma, Transcription Factor, Ap2gamma Transcription Factor Binding
CBP, Transcription Factor, CBP Transcription Factor Binding
CTCF, Transcription Factor, CCCTC-binding factor
Cfos, Transcription Factor, Cfos TF binding
Cmyc, Transcription Factor, Cmyc TF binding
DNase1, Open Chromatin, DNase1 Hypersensitive Site
E2F4, Transcription Factor, E2F4 Transcription Factor Binding
E2F6, Transcription Factor, E2F6 Transcription Factor Binding
ELF1, Transcription Factor, ELF1 Transcription Factor Binding
GTF2B, Transcription Factor, GTF2B Transcription Factor Binding
H2AK9ac, Histone, Histone 2A Lysine 9 Acetylation
H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H2BK12ac, Histone, Histone 2B Lysine 12 Acetylation
H2BK20ac, Histone, Histone 2B Lysine 20 Acetylation
H2BK5ac, Histone, Histone 2B Lysine 5 Acetylation
H3K18ac, Histone, Histone 3 Lysine 18 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36ac, Histone, Histone 3 Lysine 36 Acetylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H4K12ac, Histone, Histone 4 Lysine 12 Acetylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H4K5ac, Histone, Histone 4 Lysine 5 Acetylation
H4K8ac, Histone, Histone 4 Lysine 8 Acetylation
H4K91ac, Histone, Histone 4 Lysine 91 Acetylation
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
MOF, Transcription Factor, MOF Transcription Factor Binding
Max, Transcription Factor, Max TF binding
NELFe, Transcription Factor, NELFe Transcription Factor Binding
NFKB, Transcription Factor, NFKB Transcription Factor Binding
Nrsf, Transcription Factor, Nrsf TF binding
PCAF, Transcription Factor, PCAF Transcription Factor Binding
POU2F2, Transcription Factor, POU2F2 Transcription Factor Binding
PolII, Polymerase, RNA Polymerase II
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
SP1, Transcription Factor, SP1 Transcription Factor Binding
Sin3Ak20, Transcription Factor, Sin3Ak20 Transcription Factor Binding
TAF1, Transcription Factor, TAF1 Transcription Factor Binding
Tcf12, Transcription Factor, Tcf12 Transcription Factor Binding
Tip60, Transcription Factor, Tip60 Transcription Factor Binding
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
p300, Transcription Factor, p300 Transcription Factor Binding
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.680
1.0410.002
(flanking)-1.6430
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 increased102wt: 0.5347 / mu: 0.5848 (marginal change - not scored)wt: CGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTTTCTGGCC
mu: CGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGCC		 tcgc|GCTA
Acc marginally increased92wt: 0.6464 / mu: 0.6574 (marginal change - not scored)wt: TGTCTCGCTCCGTGGCCTTAGCTGTGCTCGCGCTACTCTCT
mu: TGTCTCGCTCCGTGGCCTTAGCTGTGCTCCCGCTACTCTCT		 ttag|CTGT
Acc marginally increased95wt: 0.2700 / mu: 0.3228 (marginal change - not scored)wt: CTCGCTCCGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTT
mu: CTCGCTCCGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTT		 gctg|TGCT
Acc gained1060.47mu: GCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGCCTGGA gcta|CTCT
distance from splice site 37
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      11 MSRSVALAVLALLSLSGLEAIQR
mutated  not conserved    11MSRSVALAVLPLLSLSGLEAIQ
Ptroglodytes  all identical  ENSPTRG00000007020  11MSRSVALAVLALLSLSGLEAIQ
Mmulatta  no homologue    
Fcatus  not conserved  ENSFCAG00000012230  11MARFVVLVLLGLLYLSHLDAVQ
Mmusculus  not conserved  ENSMUSG00000060802  11MARSVTLVFLVLVSLTGLYAIQ
Ggallus  not conserved  ENSGALG00000002160  11MGKAAAVVLVTLVALLGLAQAD
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000071168  33ILAYTRVMGNGSID
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000033246  7LSLGLVLALTLAESNI
protein features
start (aa)end (aa)featuredetails 
120SIGNALlost
2020CONFLICTA -> G (in Ref. 1; AAA51811).might get lost (downstream of altered splice site)
2121CARBOHYDN-linked (Glc) (glycation); in hemodialysis-associated amyloidosis.might get lost (downstream of altered splice site)
2222MOD_RESPyrrolidone carboxylic acid; in form pI 5.3.might get lost (downstream of altered splice site)
25113DOMAINIg-like C1-type.might get lost (downstream of altered splice site)
2633STRANDmight get lost (downstream of altered splice site)
3537HELIXmight get lost (downstream of altered splice site)
3939CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
4153STRANDmight get lost (downstream of altered splice site)
4545DISULFIDmight get lost (downstream of altered splice site)
5252CONFLICTP -> Q (in Ref. 1; AAA51811).might get lost (downstream of altered splice site)
5661STRANDmight get lost (downstream of altered splice site)
6161CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
6466STRANDmight get lost (downstream of altered splice site)
6868CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
7178STRANDmight get lost (downstream of altered splice site)
7878CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
7979MUTAGEND->P: Increases tendency towards amyloid formation.might get lost (downstream of altered splice site)
8080MUTAGENW->V: Increases tendency towards amyloid formation.might get lost (downstream of altered splice site)
8080MUTAGENW->G: Decreases tendency towards amyloid formation.might get lost (downstream of altered splice site)
8290STRANDmight get lost (downstream of altered splice site)
98103STRANDmight get lost (downstream of altered splice site)
100100DISULFIDmight get lost (downstream of altered splice site)
107109STRANDmight get lost (downstream of altered splice site)
111111CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
111114STRANDmight get lost (downstream of altered splice site)
114114CARBOHYDN-linked (Glc) (glycation); in vitro.might get lost (downstream of altered splice site)
117119HELIXmight get lost (downstream of altered splice site)
119119CONFLICTM -> I (in Ref. 7; CAG33347).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 369 / 369
position (AA) of stopcodon in wt / mu AA sequence 123 / 123
position of stopcodon in wt / mu cDNA 399 / 399
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 31 / 31
chromosome 15
strand 1
last intron/exon boundary 98
theoretical NMD boundary in CDS 17
length of CDS 369
coding sequence (CDS) position 31
cDNA position
(for ins/del: last normal base / first normal base)		 61
gDNA position
(for ins/del: last normal base / first normal base)		 101
chromosomal position
(for ins/del: last normal base / first normal base)		 45003775
original gDNA sequence snippet CCGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTTTCTGGC
altered gDNA sequence snippet CCGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGC
original cDNA sequence snippet CCGTGGCCTTAGCTGTGCTCGCGCTACTCTCTCTTTCTGGC
altered cDNA sequence snippet CCGTGGCCTTAGCTGTGCTCCCGCTACTCTCTCTTTCTGGC
wildtype AA sequence MSRSVALAVL ALLSLSGLEA IQRTPKIQVY SRHPAENGKS NFLNCYVSGF HPSDIEVDLL
KNGERIEKVE HSDLSFSKDW SFYLLYYTEF TPTEKDEYAC RVNHVTLSQP KIVKWGKSYI
LL*
mutated AA sequence MSRSVALAVL PLLSLSGLEA IQRTPKIQVY SRHPAENGKS NFLNCYVSGF HPSDIEVDLL
KNGERIEKVE HSDLSFSKDW SFYLLYYTEF TPTEKDEYAC RVNHVTLSQP KIVKWGKSYI
LL*
speed 1.08 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