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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000474597
Querying Taster for transcript #2: ENST00000244763
Querying Taster for transcript #3: ENST00000397511
Querying Taster for transcript #4: ENST00000489567
Querying Taster for transcript #5: ENST00000462112
Querying Taster for transcript #6: ENST00000534851
MT speed 5.38 s - this script 4.829157 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SSR1polymorphism_automatic7.20534742981727e-14simple_aaeaffectedL28Ssingle base exchangers10004show file
SSR1polymorphism_automatic7.20534742981727e-14simple_aaeaffectedL28Ssingle base exchangers10004show file
SSR1polymorphism_automatic7.20534742981727e-14simple_aaeaffectedL28Ssingle base exchangers10004show file
SSR1polymorphism_automatic7.20534742981727e-14simple_aaeaffectedL28Ssingle base exchangers10004show file
SSR1polymorphism_automatic7.20534742981727e-14simple_aaeaffectedL28Ssingle base exchangers10004show file
SSR1polymorphism_automatic1.68975944347949e-13simple_aaeaffectedL28Ssingle base exchangers10004show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999928 (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) chr6:7310259A>GN/A show variant in all transcripts   IGV
HGNC symbol SSR1
Ensembl transcript ID ENST00000474597
Genbank transcript ID N/A
UniProt peptide P43307
alteration type single base exchange
alteration region CDS
DNA changes c.83T>C
cDNA.170T>C
g.37421T>C
AA changes L28S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 28
frameshift no
known variant Reference ID: rs10004
databasehomozygous (G/G)heterozygousallele carriers
1000G2799161195
ExAC44362203726473
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3440.002
0.8280.013
(flanking)0.4930.017
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 increased37414wt: 0.8499 / mu: 0.8917 (marginal change - not scored)wt: GCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCA
mu: GCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCA		 tcat|TAGG
Acc marginally increased37416wt: 0.9741 / mu: 0.9779 (marginal change - not scored)wt: TTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACA
mu: TTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACA		 atta|GGCT
Acc marginally increased37413wt: 0.9869 / mu: 0.9885 (marginal change - not scored)wt: TGCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGC
mu: TGCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGC		 atca|TTAG
Acc marginally increased37417wt: 0.8103 / mu: 0.8221 (marginal change - not scored)wt: TTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAA
mu: TTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAA		 ttag|GCTT
Acc marginally increased37421wt: 0.7394 / mu: 0.7579 (marginal change - not scored)wt: CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
mu: CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC		 gctt|GTTA
Acc increased37415wt: 0.43 / mu: 0.52wt: CTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCAC
mu: CTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCAC		 catt|AGGC
Donor increased37416wt: 0.65 / mu: 0.85wt: TCATTAGGCTTGTTA
mu: TCATTAGGCTCGTTA		 ATTA|ggct
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      28ATVLFRGGPRGLLAVAQDLTEDEE
mutated  not conserved    28ATVLFRGGPRGSLAVAQDLTEDE
Ptroglodytes  not conserved  ENSPTRG00000017698  28ATVLFRGGPRGSLAVAQDLTEDE
Mmulatta  not conserved  ENSMMUG00000002147  28ATVLFRGGPRGSLAVAQDLTEDE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021427  28AAVLLRGGPGGSLALAQDPTEDE
Ggallus  all identical  ENSGALG00000012798  28AALLLRGSGTGSGLLVAAQDATEDE
Trubripes  not conserved  ENSTRUG00000002722  28ASLLIKAGPE---VSAQDLTEDE
Drerio  not conserved  ENSDARG00000040518  28ATLMLKGP----VVSAQDATEEE
Dmelanogaster  not conserved  FBgn0028327  25IVICTFSAPNKFGAYAA------
Celegans  no alignment  Y71F9AM.6  n/a
Xtropicalis  not conserved  ENSXETG00000020431  35VTLI--GNSKGPLVAAQDATEDE
protein features
start (aa)end (aa)featuredetails 
19207TOPO_DOMLumenal (Potential).lost
3737CONFLICTE -> A (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
130130CONFLICTY -> H (in Ref. 1; CAA78290).might get lost (downstream of altered splice site)
136136CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
190190CONFLICTF -> Y (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
191191CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
220220CONFLICTL -> P (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
229286TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
247247MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
263263CONFLICTQ -> R (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
268268MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
286286CONFLICTE -> D (in Ref. 5; CAG33242).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 897 / 897
position (AA) of stopcodon in wt / mu AA sequence 299 / 299
position of stopcodon in wt / mu cDNA 984 / 984
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 88 / 88
chromosome 6
strand -1
last intron/exon boundary 960
theoretical NMD boundary in CDS 822
length of CDS 897
coding sequence (CDS) position 83
cDNA position
(for ins/del: last normal base / first normal base)		 170
gDNA position
(for ins/del: last normal base / first normal base)		 37421
chromosomal position
(for ins/del: last normal base / first normal base)		 7310259
original gDNA sequence snippet CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
altered gDNA sequence snippet CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC
original cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTTGTTAGCAGTGGCACAAGATC
altered cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTCGTTAGCAGTGGCACAAGATC
wildtype AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGLLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVEDKEE EDVSGEPEAS PSADTTILFV KGEDFPANNI VKFLVGFTNK GTEDFIVESL
DASFRYPQDY QFYIQNFTAL PLNTVVPPQR QATFEYSFIP AEPMGGRPFG LVINLNYKDL
NGNVFQDAVF NQTVTVIERE DGLDGETIFM YMFLAGLGLL VIVGLHQLLE SRKRKRPIQK
VEMGTSSQND VDMSWIPQET LNQIMQSRRD KASPRRLPRK RAQKRSVGSD ERRRRETH*
mutated AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGSLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVEDKEE EDVSGEPEAS PSADTTILFV KGEDFPANNI VKFLVGFTNK GTEDFIVESL
DASFRYPQDY QFYIQNFTAL PLNTVVPPQR QATFEYSFIP AEPMGGRPFG LVINLNYKDL
NGNVFQDAVF NQTVTVIERE DGLDGETIFM YMFLAGLGLL VIVGLHQLLE SRKRKRPIQK
VEMGTSSQND VDMSWIPQET LNQIMQSRRD KASPRRLPRK RAQKRSVGSD ERRRRETH*
speed 0.84 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: 0.999999999999928 (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) chr6:7310259A>GN/A show variant in all transcripts   IGV
HGNC symbol SSR1
Ensembl transcript ID ENST00000244763
Genbank transcript ID NM_003144
UniProt peptide P43307
alteration type single base exchange
alteration region CDS
DNA changes c.83T>C
cDNA.170T>C
g.37421T>C
AA changes L28S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 28
frameshift no
known variant Reference ID: rs10004
databasehomozygous (G/G)heterozygousallele carriers
1000G2799161195
ExAC44362203726473
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3440.002
0.8280.013
(flanking)0.4930.017
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 increased37414wt: 0.8499 / mu: 0.8917 (marginal change - not scored)wt: GCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCA
mu: GCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCA		 tcat|TAGG
Acc marginally increased37416wt: 0.9741 / mu: 0.9779 (marginal change - not scored)wt: TTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACA
mu: TTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACA		 atta|GGCT
Acc marginally increased37413wt: 0.9869 / mu: 0.9885 (marginal change - not scored)wt: TGCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGC
mu: TGCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGC		 atca|TTAG
Acc marginally increased37417wt: 0.8103 / mu: 0.8221 (marginal change - not scored)wt: TTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAA
mu: TTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAA		 ttag|GCTT
Acc marginally increased37421wt: 0.7394 / mu: 0.7579 (marginal change - not scored)wt: CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
mu: CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC		 gctt|GTTA
Acc increased37415wt: 0.43 / mu: 0.52wt: CTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCAC
mu: CTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCAC		 catt|AGGC
Donor increased37416wt: 0.65 / mu: 0.85wt: TCATTAGGCTTGTTA
mu: TCATTAGGCTCGTTA		 ATTA|ggct
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      28ATVLFRGGPRGLLAVAQDLTEDEE
mutated  not conserved    28ATVLFRGGPRGSLAVAQDLTEDE
Ptroglodytes  not conserved  ENSPTRG00000017698  28ATVLFRGGPRGSLAVAQDLTEDE
Mmulatta  not conserved  ENSMMUG00000002147  28ATVLFRGGPRGSLAVAQDLTEDE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021427  28AAVLLRGGPGGSLALAQDPTEDE
Ggallus  all identical  ENSGALG00000012798  28AALLLRGSGTGSGLLVAAQDATEDE
Trubripes  not conserved  ENSTRUG00000002722  28ASLLIKAGPE---VSAQDLTEDE
Drerio  not conserved  ENSDARG00000040518  28ATLMLKGP----VVSAQDATEEE
Dmelanogaster  not conserved  FBgn0028327  25IVICTFSAPNKFGAYAA------
Celegans  no alignment  Y71F9AM.6  n/a
Xtropicalis  not conserved  ENSXETG00000020431  35VTLI--GNSKGPLVAAQDATEDE
protein features
start (aa)end (aa)featuredetails 
19207TOPO_DOMLumenal (Potential).lost
3737CONFLICTE -> A (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
130130CONFLICTY -> H (in Ref. 1; CAA78290).might get lost (downstream of altered splice site)
136136CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
190190CONFLICTF -> Y (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
191191CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
220220CONFLICTL -> P (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
229286TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
247247MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
263263CONFLICTQ -> R (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
268268MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
286286CONFLICTE -> D (in Ref. 5; CAG33242).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 861 / 861
position (AA) of stopcodon in wt / mu AA sequence 287 / 287
position of stopcodon in wt / mu cDNA 948 / 948
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 88 / 88
chromosome 6
strand -1
last intron/exon boundary 881
theoretical NMD boundary in CDS 743
length of CDS 861
coding sequence (CDS) position 83
cDNA position
(for ins/del: last normal base / first normal base)		 170
gDNA position
(for ins/del: last normal base / first normal base)		 37421
chromosomal position
(for ins/del: last normal base / first normal base)		 7310259
original gDNA sequence snippet CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
altered gDNA sequence snippet CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC
original cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTTGTTAGCAGTGGCACAAGATC
altered cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTCGTTAGCAGTGGCACAAGATC
wildtype AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGLLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVEDKEE EDVSGEPEAS PSADTTILFV KGEDFPANNI VKFLVGFTNK GTEDFIVESL
DASFRYPQDY QFYIQNFTAL PLNTVVPPQR QATFEYSFIP AEPMGGRPFG LVINLNYKDL
NGNVFQDAVF NQTVTVIERE DGLDGETIFM YMFLAGLGLL VIVGLHQLLE SRKRKRPIQK
VEMGTSSQND VDMSWIPQET LNQINKASPR RLPRKRAQKR SVGSDE*
mutated AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGSLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVEDKEE EDVSGEPEAS PSADTTILFV KGEDFPANNI VKFLVGFTNK GTEDFIVESL
DASFRYPQDY QFYIQNFTAL PLNTVVPPQR QATFEYSFIP AEPMGGRPFG LVINLNYKDL
NGNVFQDAVF NQTVTVIERE DGLDGETIFM YMFLAGLGLL VIVGLHQLLE SRKRKRPIQK
VEMGTSSQND VDMSWIPQET LNQINKASPR RLPRKRAQKR SVGSDE*
speed 0.98 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: 0.999999999999928 (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) chr6:7310259A>GN/A show variant in all transcripts   IGV
HGNC symbol SSR1
Ensembl transcript ID ENST00000397511
Genbank transcript ID N/A
UniProt peptide P43307
alteration type single base exchange
alteration region CDS
DNA changes c.83T>C
cDNA.161T>C
g.37421T>C
AA changes L28S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 28
frameshift no
known variant Reference ID: rs10004
databasehomozygous (G/G)heterozygousallele carriers
1000G2799161195
ExAC44362203726473
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3440.002
0.8280.013
(flanking)0.4930.017
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 increased37414wt: 0.8499 / mu: 0.8917 (marginal change - not scored)wt: GCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCA
mu: GCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCA		 tcat|TAGG
Acc marginally increased37416wt: 0.9741 / mu: 0.9779 (marginal change - not scored)wt: TTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACA
mu: TTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACA		 atta|GGCT
Acc marginally increased37413wt: 0.9869 / mu: 0.9885 (marginal change - not scored)wt: TGCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGC
mu: TGCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGC		 atca|TTAG
Acc marginally increased37417wt: 0.8103 / mu: 0.8221 (marginal change - not scored)wt: TTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAA
mu: TTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAA		 ttag|GCTT
Acc marginally increased37421wt: 0.7394 / mu: 0.7579 (marginal change - not scored)wt: CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
mu: CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC		 gctt|GTTA
Acc increased37415wt: 0.43 / mu: 0.52wt: CTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCAC
mu: CTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCAC		 catt|AGGC
Donor increased37416wt: 0.65 / mu: 0.85wt: TCATTAGGCTTGTTA
mu: TCATTAGGCTCGTTA		 ATTA|ggct
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      28ATVLFRGGPRGLLAVAQDLTEDEE
mutated  not conserved    28ATVLFRGGPRGSLAVAQDLTEDE
Ptroglodytes  not conserved  ENSPTRG00000017698  28ATVLFRGGPRGSLAVAQDLTEDE
Mmulatta  not conserved  ENSMMUG00000002147  28ATVLFRGGPRGSLAVAQDLTEDE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021427  28AAVLLRGGPGGSLALAQDPTEDE
Ggallus  all identical  ENSGALG00000012798  28AALLLRGSGTGSGLLVAAQDATEDE
Trubripes  not conserved  ENSTRUG00000002722  28ASLLIKAGPE---VSAQDLTEDE
Drerio  not conserved  ENSDARG00000040518  28ATLMLKGP----VVSAQDATEEE
Dmelanogaster  not conserved  FBgn0028327  25IVICTFSAPNKFGAYAA------
Celegans  no alignment  Y71F9AM.6  n/a
Xtropicalis  not conserved  ENSXETG00000020431  35VTLI--GNSKGPLVAAQDATEDE
protein features
start (aa)end (aa)featuredetails 
19207TOPO_DOMLumenal (Potential).lost
3737CONFLICTE -> A (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
130130CONFLICTY -> H (in Ref. 1; CAA78290).might get lost (downstream of altered splice site)
136136CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
190190CONFLICTF -> Y (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
191191CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
220220CONFLICTL -> P (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
229286TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
247247MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
263263CONFLICTQ -> R (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
268268MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
286286CONFLICTE -> D (in Ref. 5; CAG33242).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 876 / 876
position (AA) of stopcodon in wt / mu AA sequence 292 / 292
position of stopcodon in wt / mu cDNA 954 / 954
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 79 / 79
chromosome 6
strand -1
last intron/exon boundary 887
theoretical NMD boundary in CDS 758
length of CDS 876
coding sequence (CDS) position 83
cDNA position
(for ins/del: last normal base / first normal base)		 161
gDNA position
(for ins/del: last normal base / first normal base)		 37421
chromosomal position
(for ins/del: last normal base / first normal base)		 7310259
original gDNA sequence snippet CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
altered gDNA sequence snippet CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC
original cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTTGTTAGCAGTGGCACAAGATC
altered cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTCGTTAGCAGTGGCACAAGATC
wildtype AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGLLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVEDKEE EDVSGEPEAS PSADTTILFV KGEDFPANNI VKFLVGFTNK GTEDFIVESL
DASFRYPQDY QFYIQNFTAL PLNTVVPPQR QATFEYSFIP AEPMGGRPFG LVINLNYKDL
NGNVFQDAVF NQTVTVIERE DGLDGETIFM YMFLAGLGLL VIVGLHQLLE SRKRKRPIQK
VEMGTSSQND VDMSWIPQET LNQIMQSRRD KASPRRLPRK RAQKRSVGSD E*
mutated AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGSLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVEDKEE EDVSGEPEAS PSADTTILFV KGEDFPANNI VKFLVGFTNK GTEDFIVESL
DASFRYPQDY QFYIQNFTAL PLNTVVPPQR QATFEYSFIP AEPMGGRPFG LVINLNYKDL
NGNVFQDAVF NQTVTVIERE DGLDGETIFM YMFLAGLGLL VIVGLHQLLE SRKRKRPIQK
VEMGTSSQND VDMSWIPQET LNQIMQSRRD KASPRRLPRK RAQKRSVGSD E*
speed 0.83 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: 0.999999999999928 (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) chr6:7310259A>GN/A show variant in all transcripts   IGV
HGNC symbol SSR1
Ensembl transcript ID ENST00000462112
Genbank transcript ID N/A
UniProt peptide P43307
alteration type single base exchange
alteration region CDS
DNA changes c.83T>C
cDNA.151T>C
g.37421T>C
AA changes L28S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 28
frameshift no
known variant Reference ID: rs10004
databasehomozygous (G/G)heterozygousallele carriers
1000G2799161195
ExAC44362203726473
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3440.002
0.8280.013
(flanking)0.4930.017
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 increased37414wt: 0.8499 / mu: 0.8917 (marginal change - not scored)wt: GCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCA
mu: GCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCA		 tcat|TAGG
Acc marginally increased37416wt: 0.9741 / mu: 0.9779 (marginal change - not scored)wt: TTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACA
mu: TTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACA		 atta|GGCT
Acc marginally increased37413wt: 0.9869 / mu: 0.9885 (marginal change - not scored)wt: TGCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGC
mu: TGCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGC		 atca|TTAG
Acc marginally increased37417wt: 0.8103 / mu: 0.8221 (marginal change - not scored)wt: TTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAA
mu: TTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAA		 ttag|GCTT
Acc marginally increased37421wt: 0.7394 / mu: 0.7579 (marginal change - not scored)wt: CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
mu: CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC		 gctt|GTTA
Acc increased37415wt: 0.43 / mu: 0.52wt: CTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCAC
mu: CTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCAC		 catt|AGGC
Donor increased37416wt: 0.65 / mu: 0.85wt: TCATTAGGCTTGTTA
mu: TCATTAGGCTCGTTA		 ATTA|ggct
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      28ATVLFRGGPRGLLAVAQDLTEDEE
mutated  not conserved    28ATVLFRGGPRGSLAVAQDLTEDE
Ptroglodytes  not conserved  ENSPTRG00000017698  28ATVLFRGGPRGSLAVAQDLTEDE
Mmulatta  not conserved  ENSMMUG00000002147  28ATVLFRGGPRGSLAVAQDLTEDE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021427  28AAVLLRGGPGGSLALAQDPTEDE
Ggallus  all identical  ENSGALG00000012798  28AALLLRGSGTGSGLLVAAQDATEDE
Trubripes  not conserved  ENSTRUG00000002722  28ASLLIKAGPE---VSAQDLTEDE
Drerio  not conserved  ENSDARG00000040518  28ATLMLKGP----VVSAQDATEEE
Dmelanogaster  not conserved  FBgn0028327  25IVICTFSAPNKFGAYAA------
Celegans  no alignment  Y71F9AM.6  n/a
Xtropicalis  not conserved  ENSXETG00000020431  35VTLI--GNSKGPLVAAQDATEDE
protein features
start (aa)end (aa)featuredetails 
19207TOPO_DOMLumenal (Potential).lost
3737CONFLICTE -> A (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
130130CONFLICTY -> H (in Ref. 1; CAA78290).might get lost (downstream of altered splice site)
136136CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
190190CONFLICTF -> Y (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
191191CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
220220CONFLICTL -> P (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
229286TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
247247MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
263263CONFLICTQ -> R (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
268268MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
286286CONFLICTE -> D (in Ref. 5; CAG33242).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 798 / 798
position (AA) of stopcodon in wt / mu AA sequence 266 / 266
position of stopcodon in wt / mu cDNA 866 / 866
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 69 / 69
chromosome 6
strand -1
last intron/exon boundary 768
theoretical NMD boundary in CDS 649
length of CDS 798
coding sequence (CDS) position 83
cDNA position
(for ins/del: last normal base / first normal base)		 151
gDNA position
(for ins/del: last normal base / first normal base)		 37421
chromosomal position
(for ins/del: last normal base / first normal base)		 7310259
original gDNA sequence snippet CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
altered gDNA sequence snippet CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC
original cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTTGTTAGCAGTGGCACAAGATC
altered cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTCGTTAGCAGTGGCACAAGATC
wildtype AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGLLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVEDKEE EDVSGEPEAS PSADTTILFV KGEDFPANNI VKFLVGFTNK GTEDFIVESL
DASFRYPQDY QFYIQNFTAL PLNTVVPPQR QATFEYSFIP AEPMGGRPFG LVINLNYKDL
NGNVFQDAVF NQTVTVIERE DGLDGETIFM YMFLAGLGLL VIVGLHQLLE SRKSGSFIQD
GVQWHNLAYC NLRLRGSSHP PTSAS*
mutated AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGSLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVEDKEE EDVSGEPEAS PSADTTILFV KGEDFPANNI VKFLVGFTNK GTEDFIVESL
DASFRYPQDY QFYIQNFTAL PLNTVVPPQR QATFEYSFIP AEPMGGRPFG LVINLNYKDL
NGNVFQDAVF NQTVTVIERE DGLDGETIFM YMFLAGLGLL VIVGLHQLLE SRKSGSFIQD
GVQWHNLAYC NLRLRGSSHP PTSAS*
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

polymorphism

 Model: simple_aae, prob: 0.999999999999928 (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) chr6:7310259A>GN/A show variant in all transcripts   IGV
HGNC symbol SSR1
Ensembl transcript ID ENST00000489567
Genbank transcript ID N/A
UniProt peptide P43307
alteration type single base exchange
alteration region CDS
DNA changes c.83T>C
cDNA.137T>C
g.37421T>C
AA changes L28S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 28
frameshift no
known variant Reference ID: rs10004
databasehomozygous (G/G)heterozygousallele carriers
1000G2799161195
ExAC44362203726473
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3440.002
0.8280.013
(flanking)0.4930.017
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 increased37414wt: 0.8499 / mu: 0.8917 (marginal change - not scored)wt: GCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCA
mu: GCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCA		 tcat|TAGG
Acc marginally increased37416wt: 0.9741 / mu: 0.9779 (marginal change - not scored)wt: TTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACA
mu: TTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACA		 atta|GGCT
Acc marginally increased37413wt: 0.9869 / mu: 0.9885 (marginal change - not scored)wt: TGCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGC
mu: TGCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGC		 atca|TTAG
Acc marginally increased37417wt: 0.8103 / mu: 0.8221 (marginal change - not scored)wt: TTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAA
mu: TTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAA		 ttag|GCTT
Acc marginally increased37421wt: 0.7394 / mu: 0.7579 (marginal change - not scored)wt: CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
mu: CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC		 gctt|GTTA
Acc increased37415wt: 0.43 / mu: 0.52wt: CTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCAC
mu: CTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCAC		 catt|AGGC
Donor increased37416wt: 0.65 / mu: 0.85wt: TCATTAGGCTTGTTA
mu: TCATTAGGCTCGTTA		 ATTA|ggct
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      28ATVLFRGGPRGLLAVAQDLTEDEE
mutated  not conserved    28ATVLFRGGPRGSLAVAQDLTEDE
Ptroglodytes  not conserved  ENSPTRG00000017698  28ATVLFRGGPRGSLAVAQDLTEDEETVEDSIIEDEDDEAEVEEDE
Mmulatta  not conserved  ENSMMUG00000002147  28ATVLFRGGPRGSLAVAQDLTEDEETVEDSIIEDEDDEAEVEEDE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021427  28AAVLLRGGPGGSLALAQDPTEDEEIVEDSIIEDEDDEAEVEEDE
Ggallus  all identical  ENSGALG00000012798  28AALLLRGSGTGSGLLVAAQDATEDE
Trubripes  not conserved  ENSTRUG00000002722  28ASLLIKAGPE---VSAQDLTEDEEAEAVDEDIVEDVTAEDEDDE
Drerio  not conserved  ENSDARG00000040518  28ATLMLKGP----VVSAQDATEEE
Dmelanogaster  not conserved  FBgn0028327  25IVICTFSAPNKFGAYAA------
Celegans  no alignment  Y71F9AM.6  n/a
Xtropicalis  not conserved  ENSXETG00000020431  35VTLI--GNSKGPLVAAQDATEDE
protein features
start (aa)end (aa)featuredetails 
19207TOPO_DOMLumenal (Potential).lost
3737CONFLICTE -> A (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
130130CONFLICTY -> H (in Ref. 1; CAA78290).might get lost (downstream of altered splice site)
136136CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
190190CONFLICTF -> Y (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
191191CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
220220CONFLICTL -> P (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
229286TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
247247MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
263263CONFLICTQ -> R (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
268268MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
286286CONFLICTE -> D (in Ref. 5; CAG33242).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 657 / 657
position (AA) of stopcodon in wt / mu AA sequence 219 / 219
position of stopcodon in wt / mu cDNA 711 / 711
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 55 / 55
chromosome 6
strand -1
last intron/exon boundary 644
theoretical NMD boundary in CDS 539
length of CDS 657
coding sequence (CDS) position 83
cDNA position
(for ins/del: last normal base / first normal base)		 137
gDNA position
(for ins/del: last normal base / first normal base)		 37421
chromosomal position
(for ins/del: last normal base / first normal base)		 7310259
original gDNA sequence snippet CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
altered gDNA sequence snippet CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC
original cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTTGTTAGCAGTGGCACAAGATC
altered cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTCGTTAGCAGTGGCACAAGATC
wildtype AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGLLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVEDKEE EDVSGEPEAS PSADTTILFV KGEEPMGGRP FGLVINLNYK DLNGNVFQDA
VFNQTVTVIE REDGLDGETI FMYMFLAGLG LLVIVGLHQL LESRKRKRPI QKVEMGTSSQ
NDVDMSWIPQ ETLNQINKAS PRRLPRKRAQ KRSVGSDE*
mutated AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGSLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVEDKEE EDVSGEPEAS PSADTTILFV KGEEPMGGRP FGLVINLNYK DLNGNVFQDA
VFNQTVTVIE REDGLDGETI FMYMFLAGLG LLVIVGLHQL LESRKRKRPI QKVEMGTSSQ
NDVDMSWIPQ ETLNQINKAS PRRLPRKRAQ KRSVGSDE*
speed 0.83 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: 0.999999999999831 (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) chr6:7310259A>GN/A show variant in all transcripts   IGV
HGNC symbol SSR1
Ensembl transcript ID ENST00000534851
Genbank transcript ID N/A
UniProt peptide P43307
alteration type single base exchange
alteration region CDS
DNA changes c.83T>C
cDNA.165T>C
g.37421T>C
AA changes L28S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 28
frameshift no
known variant Reference ID: rs10004
databasehomozygous (G/G)heterozygousallele carriers
1000G2799161195
ExAC44362203726473
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K9me3, Histone, Histone 3 Lysine 9 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.3440.002
0.8280.013
(flanking)0.4930.017
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 increased37414wt: 0.8499 / mu: 0.8917 (marginal change - not scored)wt: GCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCA
mu: GCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCA		 tcat|TAGG
Acc marginally increased37416wt: 0.9741 / mu: 0.9779 (marginal change - not scored)wt: TTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACA
mu: TTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACA		 atta|GGCT
Acc marginally increased37413wt: 0.9869 / mu: 0.9885 (marginal change - not scored)wt: TGCTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGC
mu: TGCTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGC		 atca|TTAG
Acc marginally increased37417wt: 0.8103 / mu: 0.8221 (marginal change - not scored)wt: TTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAA
mu: TTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAA		 ttag|GCTT
Acc marginally increased37421wt: 0.7394 / mu: 0.7579 (marginal change - not scored)wt: CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
mu: CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC		 gctt|GTTA
Acc increased37415wt: 0.43 / mu: 0.52wt: CTTTTTCTGTATTTTATCATTAGGCTTGTTAGCAGTGGCAC
mu: CTTTTTCTGTATTTTATCATTAGGCTCGTTAGCAGTGGCAC		 catt|AGGC
Donor increased37416wt: 0.65 / mu: 0.85wt: TCATTAGGCTTGTTA
mu: TCATTAGGCTCGTTA		 ATTA|ggct
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      28ATVLFRGGPRGLLAVAQDLTEDEE
mutated  not conserved    28ATVLFRGGPRGSLAVAQDLTEDE
Ptroglodytes  not conserved  ENSPTRG00000017698  28ATVLFRGGPRGSLAVAQDLTEDE
Mmulatta  not conserved  ENSMMUG00000002147  28ATVLFRGGPRGSLAVAQDLTEDE
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000021427  28AAVLLRGGPGGSLALAQDPTEDE
Ggallus  all identical  ENSGALG00000012798  28AALLLRGSGTGSGLLVAAQDATEDE
Trubripes  not conserved  ENSTRUG00000002722  28ASLLIKAGPE---VSAQDLTEDE
Drerio  not conserved  ENSDARG00000040518  28ATLMLKGP----VVSAQDATEEE
Dmelanogaster  not conserved  FBgn0028327  25IVICTFSAPNKFGAYAAEAVEDD
Celegans  not conserved  Y71F9AM.6  14GFCAVYAADVVDGE
Xtropicalis  not conserved  ENSXETG00000020431  35VTLI--GNSKGPLVAAQDATEDE
protein features
start (aa)end (aa)featuredetails 
19207TOPO_DOMLumenal (Potential).lost
3737CONFLICTE -> A (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
130130CONFLICTY -> H (in Ref. 1; CAA78290).might get lost (downstream of altered splice site)
136136CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
190190CONFLICTF -> Y (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
191191CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
208228TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
220220CONFLICTL -> P (in Ref. 6; BAD96529).might get lost (downstream of altered splice site)
229286TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
247247MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
260260MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
263263CONFLICTQ -> R (in Ref. 4; BAF84239).might get lost (downstream of altered splice site)
268268MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
286286CONFLICTE -> D (in Ref. 5; CAG33242).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 780 / 780
position (AA) of stopcodon in wt / mu AA sequence 260 / 260
position of stopcodon in wt / mu cDNA 862 / 862
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 83 / 83
chromosome 6
strand -1
last intron/exon boundary 795
theoretical NMD boundary in CDS 662
length of CDS 780
coding sequence (CDS) position 83
cDNA position
(for ins/del: last normal base / first normal base)		 165
gDNA position
(for ins/del: last normal base / first normal base)		 37421
chromosomal position
(for ins/del: last normal base / first normal base)		 7310259
original gDNA sequence snippet CTGTATTTTATCATTAGGCTTGTTAGCAGTGGCACAAGATC
altered gDNA sequence snippet CTGTATTTTATCATTAGGCTCGTTAGCAGTGGCACAAGATC
original cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTTGTTAGCAGTGGCACAAGATC
altered cDNA sequence snippet CCGAGGCGGCCCCAGAGGCTCGTTAGCAGTGGCACAAGATC
wildtype AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGLLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVKYFPA NNIVKFLVGF TNKGTEDFIV ESLDASFRYP QDYQFYIQNF TALPLNTVVP
PQRQATFEYS FIPAEPMGGR PFGLVINLNY KDLNGNVFQD AVFNQTVTVI EREDGLDGET
IFMYMFLAGL GLLVIVGLHQ LLESRKRKRP IQKVEMGTSS QNDVDMSWIP QETLNQINKA
SPRRLPRKRA QKRSVGSDE*
mutated AA sequence MRLLPRLLLL LLLVFPATVL FRGGPRGSLA VAQDLTEDEE TVEDSIIEDE DDEAEVEEDE
PTDLVKYFPA NNIVKFLVGF TNKGTEDFIV ESLDASFRYP QDYQFYIQNF TALPLNTVVP
PQRQATFEYS FIPAEPMGGR PFGLVINLNY KDLNGNVFQD AVFNQTVTVI EREDGLDGET
IFMYMFLAGL GLLVIVGLHQ LLESRKRKRP IQKVEMGTSS QNDVDMSWIP QETLNQINKA
SPRRLPRKRA QKRSVGSDE*
speed 0.91 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