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: ENST00000400068
Querying Taster for transcript #2: ENST00000356025
Querying Taster for transcript #3: ENST00000358771
MT speed 2.77 s - this script 4.166176 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SIRPApolymorphism_automatic0.909783222735438simple_aaeaffectedR107Ssingle base exchangers17855615show file
SIRPApolymorphism_automatic0.909783222735438simple_aaeaffectedR107Ssingle base exchangers17855615show file
SIRPApolymorphism_automatic0.909783222735438simple_aaeaffectedR107Ssingle base exchangers17855615show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0902167772645624 (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) chr20:1895984C>AN/A show variant in all transcripts   IGV
HGNC symbol SIRPA
Ensembl transcript ID ENST00000400068
Genbank transcript ID N/A
UniProt peptide P78324
alteration type single base exchange
alteration region CDS
DNA changes c.319C>A
cDNA.338C>A
g.20831C>A
AA changes R107S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 107
frameshift no
known variant Reference ID: rs17855615
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC73601804725407
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.991
0.8651
(flanking)1.611
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 increased20831wt: 0.8970 / mu: 0.9040 (marginal change - not scored)wt: ACAACATGGACTTTTCCATCCGCATCGGTAACATCACCCCA
mu: ACAACATGGACTTTTCCATCAGCATCGGTAACATCACCCCA		 atcc|GCAT
Donor gained208310.81mu: CCATCAGCATCGGTA ATCA|gcat
distance from splice site 118
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      107LTKRNNMDFSIRIGNITPADAGTY
mutated  not conserved    107LTKRNNMDFSISIGNITPADAGT
Ptroglodytes  all identical  ENSPTRG00000013171  80LTKRNNMDFSIRISNITPADAGT
Mmulatta  not conserved  ENSMMUG00000018474  106PTKRNNMDFSIHISNITPADAGT
Fcatus  all identical  ENSFCAG00000003555  107ATRRNNMDFSIRISNITPEDTGT
Mmusculus  all identical  ENSMUSG00000037902  107TTKRNNMDFSIRISNVTPADAGI
Ggallus  all identical  ENSGALG00000006176  105PSN----DFTIRISNVSLEDAGT
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
31373TOPO_DOMExtracellular (Potential).lost
32137DOMAINIg-like V-type.lost
106110STRANDlost
113115HELIXmight get lost (downstream of altered splice site)
117125STRANDmight get lost (downstream of altered splice site)
121121DISULFIDmight get lost (downstream of altered splice site)
127129STRANDmight get lost (downstream of altered splice site)
132136STRANDmight get lost (downstream of altered splice site)
140145STRANDmight get lost (downstream of altered splice site)
148247DOMAINIg-like C1-type 1.might get lost (downstream of altered splice site)
152154STRANDmight get lost (downstream of altered splice site)
165178STRANDmight get lost (downstream of altered splice site)
170170DISULFIDPotential.might get lost (downstream of altered splice site)
181186STRANDmight get lost (downstream of altered splice site)
194199STRANDmight get lost (downstream of altered splice site)
207216STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
225231STRANDmight get lost (downstream of altered splice site)
228228DISULFIDPotential.might get lost (downstream of altered splice site)
240245STRANDmight get lost (downstream of altered splice site)
245245CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
246248HELIXmight get lost (downstream of altered splice site)
254348DOMAINIg-like C1-type 2.might get lost (downstream of altered splice site)
255261STRANDmight get lost (downstream of altered splice site)
259259CONFLICTT -> I (in Ref. 7; CAA71944).might get lost (downstream of altered splice site)
269281STRANDmight get lost (downstream of altered splice site)
270270CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
273273DISULFIDPotential.might get lost (downstream of altered splice site)
283289STRANDmight get lost (downstream of altered splice site)
292292CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
292298STRANDmight get lost (downstream of altered splice site)
310318STRANDmight get lost (downstream of altered splice site)
319319CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
328335STRANDmight get lost (downstream of altered splice site)
331331DISULFIDPotential.might get lost (downstream of altered splice site)
341346STRANDmight get lost (downstream of altered splice site)
374394TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
395504TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
429429MOD_RESPhosphotyrosine; by Tyr-kinases (Potential).might get lost (downstream of altered splice site)
429432MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
439444MOTIFSH3-binding (Potential).might get lost (downstream of altered splice site)
453453MOD_RESPhosphotyrosine; by Tyr-kinases (Potential).might get lost (downstream of altered splice site)
453456MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
470470MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
470473MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
496496MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
496499MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
503503CONFLICTR -> K (in Ref. 7; CAA71944).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1527 / 1527
position (AA) of stopcodon in wt / mu AA sequence 509 / 509
position of stopcodon in wt / mu cDNA 1546 / 1546
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 20 / 20
chromosome 20
strand 1
last intron/exon boundary 1298
theoretical NMD boundary in CDS 1228
length of CDS 1527
coding sequence (CDS) position 319
cDNA position
(for ins/del: last normal base / first normal base)		 338
gDNA position
(for ins/del: last normal base / first normal base)		 20831
chromosomal position
(for ins/del: last normal base / first normal base)		 1895984
original gDNA sequence snippet ACAACATGGACTTTTCCATCCGCATCGGTAACATCACCCCA
altered gDNA sequence snippet ACAACATGGACTTTTCCATCAGCATCGGTAACATCACCCCA
original cDNA sequence snippet ACAACATGGACTTTTCCATCCGCATCGGTAACATCACCCCA
altered cDNA sequence snippet ACAACATGGACTTTTCCATCAGCATCGGTAACATCACCCCA
wildtype AA sequence MEPAGPAPGR LGPLLCLLLA ASCAWSGVAG EEELQVIQPD KSVLVAAGET ATLRCTATSL
IPVGPIQWFR GAGPGRELIY NQKEGHFPRV TTVSDLTKRN NMDFSIRIGN ITPADAGTYY
CVKFRKGSPD DVEFKSGAGT ELSVRAKPSA PVVSGPAARA TPQHTVSFTC ESHGFSPRDI
TLKWFKNGNE LSDFQTNVDP VGESVSYSIH STAKVVLTRE DVHSQVICEV AHVTLQGDPL
RGTANLSETI RVPPTLEVTQ QPVRAENQVN VTCQVRKFYP QRLQLTWLEN GNVSRTETAS
TVTENKDGTY NWMSWLLVNV SAHRDDVKLT CQVEHDGQPA VSKSHDLKVS AHPKEQGSNT
AAENTGSNER NIYIVVGVVC TLLVALLMAA LYLVRIRQKK AQGSTSSTRL HEPEKNAREI
TQVQSLDTND ITYADLNLPK GKKPAPQAAE PNNHTEYASI QTSPQPASED TLTYADLDMV
HLNRTPKQPA PKPEPSFSEY ASVQVPRK*
mutated AA sequence MEPAGPAPGR LGPLLCLLLA ASCAWSGVAG EEELQVIQPD KSVLVAAGET ATLRCTATSL
IPVGPIQWFR GAGPGRELIY NQKEGHFPRV TTVSDLTKRN NMDFSISIGN ITPADAGTYY
CVKFRKGSPD DVEFKSGAGT ELSVRAKPSA PVVSGPAARA TPQHTVSFTC ESHGFSPRDI
TLKWFKNGNE LSDFQTNVDP VGESVSYSIH STAKVVLTRE DVHSQVICEV AHVTLQGDPL
RGTANLSETI RVPPTLEVTQ QPVRAENQVN VTCQVRKFYP QRLQLTWLEN GNVSRTETAS
TVTENKDGTY NWMSWLLVNV SAHRDDVKLT CQVEHDGQPA VSKSHDLKVS AHPKEQGSNT
AAENTGSNER NIYIVVGVVC TLLVALLMAA LYLVRIRQKK AQGSTSSTRL HEPEKNAREI
TQVQSLDTND ITYADLNLPK GKKPAPQAAE PNNHTEYASI QTSPQPASED TLTYADLDMV
HLNRTPKQPA PKPEPSFSEY ASVQVPRK*
speed 0.95 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: 0.0902167772645624 (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) chr20:1895984C>AN/A show variant in all transcripts   IGV
HGNC symbol SIRPA
Ensembl transcript ID ENST00000356025
Genbank transcript ID NM_080792
UniProt peptide P78324
alteration type single base exchange
alteration region CDS
DNA changes c.319C>A
cDNA.342C>A
g.20831C>A
AA changes R107S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 107
frameshift no
known variant Reference ID: rs17855615
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC73601804725407
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.991
0.8651
(flanking)1.611
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 increased20831wt: 0.8970 / mu: 0.9040 (marginal change - not scored)wt: ACAACATGGACTTTTCCATCCGCATCGGTAACATCACCCCA
mu: ACAACATGGACTTTTCCATCAGCATCGGTAACATCACCCCA		 atcc|GCAT
Donor gained208310.81mu: CCATCAGCATCGGTA ATCA|gcat
distance from splice site 118
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      107LTKRNNMDFSIRIGNITPADAGTY
mutated  not conserved    107LTKRNNMDFSISIGNITPADAGT
Ptroglodytes  all identical  ENSPTRG00000013171  80LTKRNNMDFSIRISNITPADAGT
Mmulatta  not conserved  ENSMMUG00000018474  106PTKRNNMDFSIHISNITPADAGT
Fcatus  all identical  ENSFCAG00000003555  107ATRRNNMDFSIRISNITPEDTGT
Mmusculus  all identical  ENSMUSG00000037902  107TTKRNNMDFSIRISNVTPADAGI
Ggallus  all identical  ENSGALG00000006176  105PSN----DFTIRISNVSLEDAGT
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
31373TOPO_DOMExtracellular (Potential).lost
32137DOMAINIg-like V-type.lost
106110STRANDlost
113115HELIXmight get lost (downstream of altered splice site)
117125STRANDmight get lost (downstream of altered splice site)
121121DISULFIDmight get lost (downstream of altered splice site)
127129STRANDmight get lost (downstream of altered splice site)
132136STRANDmight get lost (downstream of altered splice site)
140145STRANDmight get lost (downstream of altered splice site)
148247DOMAINIg-like C1-type 1.might get lost (downstream of altered splice site)
152154STRANDmight get lost (downstream of altered splice site)
165178STRANDmight get lost (downstream of altered splice site)
170170DISULFIDPotential.might get lost (downstream of altered splice site)
181186STRANDmight get lost (downstream of altered splice site)
194199STRANDmight get lost (downstream of altered splice site)
207216STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
225231STRANDmight get lost (downstream of altered splice site)
228228DISULFIDPotential.might get lost (downstream of altered splice site)
240245STRANDmight get lost (downstream of altered splice site)
245245CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
246248HELIXmight get lost (downstream of altered splice site)
254348DOMAINIg-like C1-type 2.might get lost (downstream of altered splice site)
255261STRANDmight get lost (downstream of altered splice site)
259259CONFLICTT -> I (in Ref. 7; CAA71944).might get lost (downstream of altered splice site)
269281STRANDmight get lost (downstream of altered splice site)
270270CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
273273DISULFIDPotential.might get lost (downstream of altered splice site)
283289STRANDmight get lost (downstream of altered splice site)
292292CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
292298STRANDmight get lost (downstream of altered splice site)
310318STRANDmight get lost (downstream of altered splice site)
319319CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
328335STRANDmight get lost (downstream of altered splice site)
331331DISULFIDPotential.might get lost (downstream of altered splice site)
341346STRANDmight get lost (downstream of altered splice site)
374394TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
395504TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
429429MOD_RESPhosphotyrosine; by Tyr-kinases (Potential).might get lost (downstream of altered splice site)
429432MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
439444MOTIFSH3-binding (Potential).might get lost (downstream of altered splice site)
453453MOD_RESPhosphotyrosine; by Tyr-kinases (Potential).might get lost (downstream of altered splice site)
453456MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
470470MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
470473MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
496496MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
496499MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
503503CONFLICTR -> K (in Ref. 7; CAA71944).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1515 / 1515
position (AA) of stopcodon in wt / mu AA sequence 505 / 505
position of stopcodon in wt / mu cDNA 1538 / 1538
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 24 / 24
chromosome 20
strand 1
last intron/exon boundary 1290
theoretical NMD boundary in CDS 1216
length of CDS 1515
coding sequence (CDS) position 319
cDNA position
(for ins/del: last normal base / first normal base)		 342
gDNA position
(for ins/del: last normal base / first normal base)		 20831
chromosomal position
(for ins/del: last normal base / first normal base)		 1895984
original gDNA sequence snippet ACAACATGGACTTTTCCATCCGCATCGGTAACATCACCCCA
altered gDNA sequence snippet ACAACATGGACTTTTCCATCAGCATCGGTAACATCACCCCA
original cDNA sequence snippet ACAACATGGACTTTTCCATCCGCATCGGTAACATCACCCCA
altered cDNA sequence snippet ACAACATGGACTTTTCCATCAGCATCGGTAACATCACCCCA
wildtype AA sequence MEPAGPAPGR LGPLLCLLLA ASCAWSGVAG EEELQVIQPD KSVLVAAGET ATLRCTATSL
IPVGPIQWFR GAGPGRELIY NQKEGHFPRV TTVSDLTKRN NMDFSIRIGN ITPADAGTYY
CVKFRKGSPD DVEFKSGAGT ELSVRAKPSA PVVSGPAARA TPQHTVSFTC ESHGFSPRDI
TLKWFKNGNE LSDFQTNVDP VGESVSYSIH STAKVVLTRE DVHSQVICEV AHVTLQGDPL
RGTANLSETI RVPPTLEVTQ QPVRAENQVN VTCQVRKFYP QRLQLTWLEN GNVSRTETAS
TVTENKDGTY NWMSWLLVNV SAHRDDVKLT CQVEHDGQPA VSKSHDLKVS AHPKEQGSNT
AAENTGSNER NIYIVVGVVC TLLVALLMAA LYLVRIRQKK AQGSTSSTRL HEPEKNAREI
TQDTNDITYA DLNLPKGKKP APQAAEPNNH TEYASIQTSP QPASEDTLTY ADLDMVHLNR
TPKQPAPKPE PSFSEYASVQ VPRK*
mutated AA sequence MEPAGPAPGR LGPLLCLLLA ASCAWSGVAG EEELQVIQPD KSVLVAAGET ATLRCTATSL
IPVGPIQWFR GAGPGRELIY NQKEGHFPRV TTVSDLTKRN NMDFSISIGN ITPADAGTYY
CVKFRKGSPD DVEFKSGAGT ELSVRAKPSA PVVSGPAARA TPQHTVSFTC ESHGFSPRDI
TLKWFKNGNE LSDFQTNVDP VGESVSYSIH STAKVVLTRE DVHSQVICEV AHVTLQGDPL
RGTANLSETI RVPPTLEVTQ QPVRAENQVN VTCQVRKFYP QRLQLTWLEN GNVSRTETAS
TVTENKDGTY NWMSWLLVNV SAHRDDVKLT CQVEHDGQPA VSKSHDLKVS AHPKEQGSNT
AAENTGSNER NIYIVVGVVC TLLVALLMAA LYLVRIRQKK AQGSTSSTRL HEPEKNAREI
TQDTNDITYA DLNLPKGKKP APQAAEPNNH TEYASIQTSP QPASEDTLTY ADLDMVHLNR
TPKQPAPKPE PSFSEYASVQ VPRK*
speed 0.95 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: 0.0902167772645624 (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) chr20:1895984C>AN/A show variant in all transcripts   IGV
HGNC symbol SIRPA
Ensembl transcript ID ENST00000358771
Genbank transcript ID NM_001040022
UniProt peptide P78324
alteration type single base exchange
alteration region CDS
DNA changes c.319C>A
cDNA.471C>A
g.20831C>A
AA changes R107S Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 107
frameshift no
known variant Reference ID: rs17855615
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC73601804725407
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.991
0.8651
(flanking)1.611
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 increased20831wt: 0.8970 / mu: 0.9040 (marginal change - not scored)wt: ACAACATGGACTTTTCCATCCGCATCGGTAACATCACCCCA
mu: ACAACATGGACTTTTCCATCAGCATCGGTAACATCACCCCA		 atcc|GCAT
Donor gained208310.81mu: CCATCAGCATCGGTA ATCA|gcat
distance from splice site 118
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      107LTKRNNMDFSIRIGNITPADAGTY
mutated  not conserved    107LTKRNNMDFSISIGNITPADAGT
Ptroglodytes  all identical  ENSPTRG00000013171  80LTKRNNMDFSIRISNITPADAGT
Mmulatta  not conserved  ENSMMUG00000018474  106PTKRNNMDFSIHISNITPADAGT
Fcatus  all identical  ENSFCAG00000003555  107ATRRNNMDFSIRISNITPEDTGT
Mmusculus  all identical  ENSMUSG00000037902  107TTKRNNMDFSIRISNVTPADAGI
Ggallus  all identical  ENSGALG00000006176  105PSN----DFTIRISNVSLEDAGT
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
31373TOPO_DOMExtracellular (Potential).lost
32137DOMAINIg-like V-type.lost
106110STRANDlost
113115HELIXmight get lost (downstream of altered splice site)
117125STRANDmight get lost (downstream of altered splice site)
121121DISULFIDmight get lost (downstream of altered splice site)
127129STRANDmight get lost (downstream of altered splice site)
132136STRANDmight get lost (downstream of altered splice site)
140145STRANDmight get lost (downstream of altered splice site)
148247DOMAINIg-like C1-type 1.might get lost (downstream of altered splice site)
152154STRANDmight get lost (downstream of altered splice site)
165178STRANDmight get lost (downstream of altered splice site)
170170DISULFIDPotential.might get lost (downstream of altered splice site)
181186STRANDmight get lost (downstream of altered splice site)
194199STRANDmight get lost (downstream of altered splice site)
207216STRANDmight get lost (downstream of altered splice site)
221223HELIXmight get lost (downstream of altered splice site)
225231STRANDmight get lost (downstream of altered splice site)
228228DISULFIDPotential.might get lost (downstream of altered splice site)
240245STRANDmight get lost (downstream of altered splice site)
245245CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
246248HELIXmight get lost (downstream of altered splice site)
254348DOMAINIg-like C1-type 2.might get lost (downstream of altered splice site)
255261STRANDmight get lost (downstream of altered splice site)
259259CONFLICTT -> I (in Ref. 7; CAA71944).might get lost (downstream of altered splice site)
269281STRANDmight get lost (downstream of altered splice site)
270270CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
273273DISULFIDPotential.might get lost (downstream of altered splice site)
283289STRANDmight get lost (downstream of altered splice site)
292292CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
292298STRANDmight get lost (downstream of altered splice site)
310318STRANDmight get lost (downstream of altered splice site)
319319CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
328335STRANDmight get lost (downstream of altered splice site)
331331DISULFIDPotential.might get lost (downstream of altered splice site)
341346STRANDmight get lost (downstream of altered splice site)
374394TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
395504TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
429429MOD_RESPhosphotyrosine; by Tyr-kinases (Potential).might get lost (downstream of altered splice site)
429432MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
439444MOTIFSH3-binding (Potential).might get lost (downstream of altered splice site)
453453MOD_RESPhosphotyrosine; by Tyr-kinases (Potential).might get lost (downstream of altered splice site)
453456MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
470470MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
470473MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
496496MOD_RESPhosphotyrosine; by Tyr-kinases (By similarity).might get lost (downstream of altered splice site)
496499MOTIFSH2-binding (Potential).might get lost (downstream of altered splice site)
503503CONFLICTR -> K (in Ref. 7; CAA71944).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1515 / 1515
position (AA) of stopcodon in wt / mu AA sequence 505 / 505
position of stopcodon in wt / mu cDNA 1667 / 1667
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 153 / 153
chromosome 20
strand 1
last intron/exon boundary 1419
theoretical NMD boundary in CDS 1216
length of CDS 1515
coding sequence (CDS) position 319
cDNA position
(for ins/del: last normal base / first normal base)		 471
gDNA position
(for ins/del: last normal base / first normal base)		 20831
chromosomal position
(for ins/del: last normal base / first normal base)		 1895984
original gDNA sequence snippet ACAACATGGACTTTTCCATCCGCATCGGTAACATCACCCCA
altered gDNA sequence snippet ACAACATGGACTTTTCCATCAGCATCGGTAACATCACCCCA
original cDNA sequence snippet ACAACATGGACTTTTCCATCCGCATCGGTAACATCACCCCA
altered cDNA sequence snippet ACAACATGGACTTTTCCATCAGCATCGGTAACATCACCCCA
wildtype AA sequence MEPAGPAPGR LGPLLCLLLA ASCAWSGVAG EEELQVIQPD KSVLVAAGET ATLRCTATSL
IPVGPIQWFR GAGPGRELIY NQKEGHFPRV TTVSDLTKRN NMDFSIRIGN ITPADAGTYY
CVKFRKGSPD DVEFKSGAGT ELSVRAKPSA PVVSGPAARA TPQHTVSFTC ESHGFSPRDI
TLKWFKNGNE LSDFQTNVDP VGESVSYSIH STAKVVLTRE DVHSQVICEV AHVTLQGDPL
RGTANLSETI RVPPTLEVTQ QPVRAENQVN VTCQVRKFYP QRLQLTWLEN GNVSRTETAS
TVTENKDGTY NWMSWLLVNV SAHRDDVKLT CQVEHDGQPA VSKSHDLKVS AHPKEQGSNT
AAENTGSNER NIYIVVGVVC TLLVALLMAA LYLVRIRQKK AQGSTSSTRL HEPEKNAREI
TQDTNDITYA DLNLPKGKKP APQAAEPNNH TEYASIQTSP QPASEDTLTY ADLDMVHLNR
TPKQPAPKPE PSFSEYASVQ VPRK*
mutated AA sequence MEPAGPAPGR LGPLLCLLLA ASCAWSGVAG EEELQVIQPD KSVLVAAGET ATLRCTATSL
IPVGPIQWFR GAGPGRELIY NQKEGHFPRV TTVSDLTKRN NMDFSISIGN ITPADAGTYY
CVKFRKGSPD DVEFKSGAGT ELSVRAKPSA PVVSGPAARA TPQHTVSFTC ESHGFSPRDI
TLKWFKNGNE LSDFQTNVDP VGESVSYSIH STAKVVLTRE DVHSQVICEV AHVTLQGDPL
RGTANLSETI RVPPTLEVTQ QPVRAENQVN VTCQVRKFYP QRLQLTWLEN GNVSRTETAS
TVTENKDGTY NWMSWLLVNV SAHRDDVKLT CQVEHDGQPA VSKSHDLKVS AHPKEQGSNT
AAENTGSNER NIYIVVGVVC TLLVALLMAA LYLVRIRQKK AQGSTSSTRL HEPEKNAREI
TQDTNDITYA DLNLPKGKKP APQAAEPNNH TEYASIQTSP QPASEDTLTY ADLDMVHLNR
TPKQPAPKPE PSFSEYASVQ VPRK*
speed 0.87 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