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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000389817
Querying Taster for transcript #2: ENST00000302539
MT speed 2.48 s - this script 4.6791 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ABCC8disease_causing_automatic0.999968594989787simple_aaeaffected0V187Dsingle base exchangers137852672show file
ABCC8disease_causing_automatic0.999968594989787simple_aaeaffected0V187Dsingle base exchangers137852672show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999968594989787 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM991161)
  • known disease mutation: rs9099 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:17485004A>TN/A show variant in all transcripts   IGV
HGNC symbol ABCC8
Ensembl transcript ID ENST00000389817
Genbank transcript ID NM_000352
UniProt peptide Q09428
alteration type single base exchange
alteration region CDS
DNA changes c.560T>A
cDNA.629T>A
g.13446T>A
AA changes V187D Score: 152 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 187
frameshift no
known variant Reference ID: rs137852672
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC01515

known disease mutation: rs9099 (pathogenic for Hyperinsulinemic hypoglycemia, familial, 1|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM991161)

known disease mutation at this position, please check HGMD for details (HGMD ID CM991161)
known disease mutation at this position, please check HGMD for details (HGMD ID CM991161)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8631
4.9241
(flanking)-0.1550.942
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 increased13440wt: 0.7007 / mu: 0.7605 (marginal change - not scored)wt: CTATGGGATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGG
mu: CTATGGGATGCTGCTCCTCGTGGAGGACAATGTCATCAGGG		 tcgt|GGAG
Donor marginally increased13438wt: 0.9829 / mu: 0.9887 (marginal change - not scored)wt: CTCCTCGTGGAGGTC
mu: CTCCTCGTGGAGGAC		 CCTC|gtgg
Donor increased13445wt: 0.61 / mu: 0.73wt: TGGAGGTCAATGTCA
mu: TGGAGGACAATGTCA		 GAGG|tcaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      187VILYGMLLLVEVNVIRVRRYIFFK
mutated  not conserved    187MLLLVEDNVIRVRRYIFF
Ptroglodytes  all identical  ENSPTRG00000003403  138VILYGMLLLVEVNVIRVRRYIFF
Mmulatta  all identical  ENSMMUG00000023581  186MLLLVEVNVIRVRRYIFF
Fcatus  not conserved  ENSFCAG00000004967  137XXXXXXXXXXXXXXXXXXRYIFF
Mmusculus  all conserved  ENSMUSG00000040136  187MLLLVEINVIRVRRYIFF
Ggallus  all conserved  ENSGALG00000006172  187MLLAVEINVIRVRRYVFF
Trubripes  all conserved  ENSTRUG00000005978  187LLLAVEINVILGRRYVCF
Drerio  no alignment  ENSDARG00000077007  n/a
Dmelanogaster  no homologue    
Celegans  no alignment  F14F4.3  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
168194TRANSMEMHelical; Name=5; (By similarity).lost
195311TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
225225CONFLICTL -> P (in Ref. 3; AAB36699/AAB36700).might get lost (downstream of altered splice site)
256256CONFLICTA -> V (in Ref. 3; AAB36699/AAB36700).might get lost (downstream of altered splice site)
299602DOMAINABC transmembrane type-1 1.might get lost (downstream of altered splice site)
312331TRANSMEMHelical; Name=6; (By similarity).might get lost (downstream of altered splice site)
332355TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
356376TRANSMEMHelical; Name=7; (By similarity).might get lost (downstream of altered splice site)
377434TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
435455TRANSMEMHelical; Name=8; (By similarity).might get lost (downstream of altered splice site)
456458TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
459479TRANSMEMHelical; Name=9; (By similarity).might get lost (downstream of altered splice site)
480541TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
487487CONFLICTS -> T (in Ref. 2; AAB02278/AAB02417/ AAB02418).might get lost (downstream of altered splice site)
542562TRANSMEMHelical; Name=10; (By similarity).might get lost (downstream of altered splice site)
563584TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
585605TRANSMEMHelical; Name=11; (By similarity).might get lost (downstream of altered splice site)
6061004TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
679929DOMAINABC transporter 1.might get lost (downstream of altered splice site)
713720NP_BINDATP 1 (Potential).might get lost (downstream of altered splice site)
10051025TRANSMEMHelical; Name=12; (By similarity).might get lost (downstream of altered splice site)
10121306DOMAINABC transmembrane type-1 2.might get lost (downstream of altered splice site)
10261072TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
10491049CARBOHYDN-linked (GlcNAc...) (By similarity).might get lost (downstream of altered splice site)
10691070CONFLICTVL -> AV (in Ref. 2; AAB02278/AAB02417/ AAB02418).might get lost (downstream of altered splice site)
10731093TRANSMEMHelical; Name=13; (By similarity).might get lost (downstream of altered splice site)
10941137TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
11381158TRANSMEMHelical; Name=14; (By similarity).might get lost (downstream of altered splice site)
11591159TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
11601180TRANSMEMHelical; Name=15; (By similarity).might get lost (downstream of altered splice site)
11721172CONFLICTI -> V (in Ref. 3; AAB36699/AAB36700).might get lost (downstream of altered splice site)
11811251TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
12521272TRANSMEMHelical; Name=16; (By similarity).might get lost (downstream of altered splice site)
12731276TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
12771297TRANSMEMHelical; Name=17; (By similarity).might get lost (downstream of altered splice site)
12981581TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
13441578DOMAINABC transporter 2.might get lost (downstream of altered splice site)
13781385NP_BINDATP 2 (Potential).might get lost (downstream of altered splice site)
14101410CONFLICTA -> R (in Ref. 3; AAB36699/AAB36700).might get lost (downstream of altered splice site)
14181418CONFLICTR -> P (in Ref. 3; AAB36699/AAB36700).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4746 / 4746
position (AA) of stopcodon in wt / mu AA sequence 1582 / 1582
position of stopcodon in wt / mu cDNA 4815 / 4815
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 70 / 70
chromosome 11
strand -1
last intron/exon boundary 4678
theoretical NMD boundary in CDS 4558
length of CDS 4746
coding sequence (CDS) position 560
cDNA position
(for ins/del: last normal base / first normal base)		 629
gDNA position
(for ins/del: last normal base / first normal base)		 13446
chromosomal position
(for ins/del: last normal base / first normal base)		 17485004
original gDNA sequence snippet GATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGGTGAGGG
altered gDNA sequence snippet GATGCTGCTCCTCGTGGAGGACAATGTCATCAGGGTGAGGG
original cDNA sequence snippet GATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGGTGAGGA
altered cDNA sequence snippet GATGCTGCTCCTCGTGGAGGACAATGTCATCAGGGTGAGGA
wildtype AA sequence MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG WGSQSSKVHI
HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE SHHLHLYMPA GMAFMAAVTS
VVYYHNIETS NFPKLLIALL VYWTLAFITK TIKFVKFLDH AIGFSQLRFC LTGLLVILYG
MLLLVEVNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE FLANAYVLAV
LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM HLSTSNLSMG EMTAGQICNL
VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI LLYYILGVSA LIGAAVIILL APVQYFVATK
LSQAQRSTLE YSNERLKQTN EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT
SISIFMNTAI PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR PAREDCRGLT
GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT IRIPRGQLTM IVGQVGCGKS
SLLLAALGEM QKVSGAVFWS SLPDSEIGED PSPERETATD LDIRKRGPVA YASQKPWLLN
ATVEENIIFE SPFNKQRYKM VIEACSLQPD IDILPHGDQT QIGERGINLS GGQRQRISVA
RALYQHANVV FLDDPFSALD IHLSDHLMQA GILELLRDDK RTVVLVTHKL QYLPHADWII
AMKDGTIQRE GTLKDFQRSE CQLFEHWKTL MNRQDQELEK ETVTERKATE PPQGLSRAMS
SRDGLLQDEE EEEEEAAESE EDDNLSSMLH QRAEIPWRAC AKYLSSAGIL LLSLLVFSQL
LKHMVLVAID YWLAKWTDSA LTLTPAARNC SLSQECTLDQ TVYAMVFTVL CSLGIVLCLV
TSVTVEWTGL KVAKRLHRSL LNRIILAPMR FFETTPLGSI LNRFSSDCNT IDQHIPSTLE
CLSRSTLLCV SALAVISYVT PVFLVALLPL AIVCYFIQKY FRVASRDLQQ LDDTTQLPLL
SHFAETVEGL TTIRAFRYEA RFQQKLLEYT DSNNIASLFL TAANRWLEVR MEYIGACVVL
IAAVTSISNS LHRELSAGLV GLGLTYALMV SNYLNWMVRN LADMELQLGA VKRIHGLLKT
EAESYEGLLA PSLIPKNWPD QGKIQIQNLS VRYDSSLKPV LKHVNALIAP GQKIGICGRT
GSGKSSFSLA FFRMVDTFEG HIIIDGIDIA KLPLHTLRSR LSIILQDPVL FSGTIRFNLD
PERKCSDSTL WEALEIAQLK LVVKALPGGL DAIITEGGEN FSQGQRQLFC LARAFVRKTS
IFIMDEATAS IDMATENILQ KVVMTAFADR TVVTIAHRVH TILSADLVIV LKRGAILEFD
KPEKLLSRKD SVFASFVRAD K*
mutated AA sequence MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG WGSQSSKVHI
HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE SHHLHLYMPA GMAFMAAVTS
VVYYHNIETS NFPKLLIALL VYWTLAFITK TIKFVKFLDH AIGFSQLRFC LTGLLVILYG
MLLLVEDNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE FLANAYVLAV
LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM HLSTSNLSMG EMTAGQICNL
VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI LLYYILGVSA LIGAAVIILL APVQYFVATK
LSQAQRSTLE YSNERLKQTN EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT
SISIFMNTAI PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR PAREDCRGLT
GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT IRIPRGQLTM IVGQVGCGKS
SLLLAALGEM QKVSGAVFWS SLPDSEIGED PSPERETATD LDIRKRGPVA YASQKPWLLN
ATVEENIIFE SPFNKQRYKM VIEACSLQPD IDILPHGDQT QIGERGINLS GGQRQRISVA
RALYQHANVV FLDDPFSALD IHLSDHLMQA GILELLRDDK RTVVLVTHKL QYLPHADWII
AMKDGTIQRE GTLKDFQRSE CQLFEHWKTL MNRQDQELEK ETVTERKATE PPQGLSRAMS
SRDGLLQDEE EEEEEAAESE EDDNLSSMLH QRAEIPWRAC AKYLSSAGIL LLSLLVFSQL
LKHMVLVAID YWLAKWTDSA LTLTPAARNC SLSQECTLDQ TVYAMVFTVL CSLGIVLCLV
TSVTVEWTGL KVAKRLHRSL LNRIILAPMR FFETTPLGSI LNRFSSDCNT IDQHIPSTLE
CLSRSTLLCV SALAVISYVT PVFLVALLPL AIVCYFIQKY FRVASRDLQQ LDDTTQLPLL
SHFAETVEGL TTIRAFRYEA RFQQKLLEYT DSNNIASLFL TAANRWLEVR MEYIGACVVL
IAAVTSISNS LHRELSAGLV GLGLTYALMV SNYLNWMVRN LADMELQLGA VKRIHGLLKT
EAESYEGLLA PSLIPKNWPD QGKIQIQNLS VRYDSSLKPV LKHVNALIAP GQKIGICGRT
GSGKSSFSLA FFRMVDTFEG HIIIDGIDIA KLPLHTLRSR LSIILQDPVL FSGTIRFNLD
PERKCSDSTL WEALEIAQLK LVVKALPGGL DAIITEGGEN FSQGQRQLFC LARAFVRKTS
IFIMDEATAS IDMATENILQ KVVMTAFADR TVVTIAHRVH TILSADLVIV LKRGAILEFD
KPEKLLSRKD SVFASFVRAD K*
speed 1.29 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999968594989787 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM991161)
  • known disease mutation: rs9099 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:17485004A>TN/A show variant in all transcripts   IGV
HGNC symbol ABCC8
Ensembl transcript ID ENST00000302539
Genbank transcript ID N/A
UniProt peptide Q09428
alteration type single base exchange
alteration region CDS
DNA changes c.560T>A
cDNA.686T>A
g.13446T>A
AA changes V187D Score: 152 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 187
frameshift no
known variant Reference ID: rs137852672
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC01515

known disease mutation: rs9099 (pathogenic for Hyperinsulinemic hypoglycemia, familial, 1|not provided) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM991161)

known disease mutation at this position, please check HGMD for details (HGMD ID CM991161)
known disease mutation at this position, please check HGMD for details (HGMD ID CM991161)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
Max, Transcription Factor, Max TF binding
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8631
4.9241
(flanking)-0.1550.942
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 increased13440wt: 0.7007 / mu: 0.7605 (marginal change - not scored)wt: CTATGGGATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGG
mu: CTATGGGATGCTGCTCCTCGTGGAGGACAATGTCATCAGGG		 tcgt|GGAG
Donor marginally increased13438wt: 0.9829 / mu: 0.9887 (marginal change - not scored)wt: CTCCTCGTGGAGGTC
mu: CTCCTCGTGGAGGAC		 CCTC|gtgg
Donor increased13445wt: 0.61 / mu: 0.73wt: TGGAGGTCAATGTCA
mu: TGGAGGACAATGTCA		 GAGG|tcaa
distance from splice site 20
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      187VILYGMLLLVEVNVIRVRRYIFFK
mutated  not conserved    187MLLLVEDNVIRVRRYIFF
Ptroglodytes  all identical  ENSPTRG00000003403  138VILYGMLLLVEVNVIRVRRYIFF
Mmulatta  all identical  ENSMMUG00000023581  186MLLLVEVNVIRVRRYIFF
Fcatus  not conserved  ENSFCAG00000004967  137XXXXXXXXXXXXXXXXXXRYIFF
Mmusculus  all conserved  ENSMUSG00000040136  187MLLLVEINVIRVRRYIFF
Ggallus  all conserved  ENSGALG00000006172  187MLLAVEINVIRVRRYVFF
Trubripes  all conserved  ENSTRUG00000005978  187LLLAVEINVILGRRYVCF
Drerio  no alignment  ENSDARG00000077007  n/a
Dmelanogaster  no homologue    
Celegans  no alignment  F14F4.3  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
168194TRANSMEMHelical; Name=5; (By similarity).lost
195311TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
225225CONFLICTL -> P (in Ref. 3; AAB36699/AAB36700).might get lost (downstream of altered splice site)
256256CONFLICTA -> V (in Ref. 3; AAB36699/AAB36700).might get lost (downstream of altered splice site)
299602DOMAINABC transmembrane type-1 1.might get lost (downstream of altered splice site)
312331TRANSMEMHelical; Name=6; (By similarity).might get lost (downstream of altered splice site)
332355TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
356376TRANSMEMHelical; Name=7; (By similarity).might get lost (downstream of altered splice site)
377434TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
435455TRANSMEMHelical; Name=8; (By similarity).might get lost (downstream of altered splice site)
456458TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
459479TRANSMEMHelical; Name=9; (By similarity).might get lost (downstream of altered splice site)
480541TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
487487CONFLICTS -> T (in Ref. 2; AAB02278/AAB02417/ AAB02418).might get lost (downstream of altered splice site)
542562TRANSMEMHelical; Name=10; (By similarity).might get lost (downstream of altered splice site)
563584TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
585605TRANSMEMHelical; Name=11; (By similarity).might get lost (downstream of altered splice site)
6061004TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
679929DOMAINABC transporter 1.might get lost (downstream of altered splice site)
713720NP_BINDATP 1 (Potential).might get lost (downstream of altered splice site)
10051025TRANSMEMHelical; Name=12; (By similarity).might get lost (downstream of altered splice site)
10121306DOMAINABC transmembrane type-1 2.might get lost (downstream of altered splice site)
10261072TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
10491049CARBOHYDN-linked (GlcNAc...) (By similarity).might get lost (downstream of altered splice site)
10691070CONFLICTVL -> AV (in Ref. 2; AAB02278/AAB02417/ AAB02418).might get lost (downstream of altered splice site)
10731093TRANSMEMHelical; Name=13; (By similarity).might get lost (downstream of altered splice site)
10941137TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
11381158TRANSMEMHelical; Name=14; (By similarity).might get lost (downstream of altered splice site)
11591159TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
11601180TRANSMEMHelical; Name=15; (By similarity).might get lost (downstream of altered splice site)
11721172CONFLICTI -> V (in Ref. 3; AAB36699/AAB36700).might get lost (downstream of altered splice site)
11811251TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
12521272TRANSMEMHelical; Name=16; (By similarity).might get lost (downstream of altered splice site)
12731276TOPO_DOMExtracellular (By similarity).might get lost (downstream of altered splice site)
12771297TRANSMEMHelical; Name=17; (By similarity).might get lost (downstream of altered splice site)
12981581TOPO_DOMCytoplasmic (By similarity).might get lost (downstream of altered splice site)
13441578DOMAINABC transporter 2.might get lost (downstream of altered splice site)
13781385NP_BINDATP 2 (Potential).might get lost (downstream of altered splice site)
14101410CONFLICTA -> R (in Ref. 3; AAB36699/AAB36700).might get lost (downstream of altered splice site)
14181418CONFLICTR -> P (in Ref. 3; AAB36699/AAB36700).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4749 / 4749
position (AA) of stopcodon in wt / mu AA sequence 1583 / 1583
position of stopcodon in wt / mu cDNA 4875 / 4875
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 127 / 127
chromosome 11
strand -1
last intron/exon boundary 4738
theoretical NMD boundary in CDS 4561
length of CDS 4749
coding sequence (CDS) position 560
cDNA position
(for ins/del: last normal base / first normal base)		 686
gDNA position
(for ins/del: last normal base / first normal base)		 13446
chromosomal position
(for ins/del: last normal base / first normal base)		 17485004
original gDNA sequence snippet GATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGGTGAGGG
altered gDNA sequence snippet GATGCTGCTCCTCGTGGAGGACAATGTCATCAGGGTGAGGG
original cDNA sequence snippet GATGCTGCTCCTCGTGGAGGTCAATGTCATCAGGGTGAGGA
altered cDNA sequence snippet GATGCTGCTCCTCGTGGAGGACAATGTCATCAGGGTGAGGA
wildtype AA sequence MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG WGSQSSKVHI
HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE SHHLHLYMPA GMAFMAAVTS
VVYYHNIETS NFPKLLIALL VYWTLAFITK TIKFVKFLDH AIGFSQLRFC LTGLLVILYG
MLLLVEVNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE FLANAYVLAV
LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM HLSTSNLSMG EMTAGQICNL
VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI LLYYILGVSA LIGAAVIILL APVQYFVATK
LSQAQRSTLE YSNERLKQTN EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT
SISIFMNTAI PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR PAREDCRGLT
GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT IRIPRGQLTM IVGQVGCGKS
SLLLAALGEM QKVSGAVFWS SSLPDSEIGE DPSPERETAT DLDIRKRGPV AYASQKPWLL
NATVEENIIF ESPFNKQRYK MVIEACSLQP DIDILPHGDQ TQIGERGINL SGGQRQRISV
ARALYQHANV VFLDDPFSAL DIHLSDHLMQ AGILELLRDD KRTVVLVTHK LQYLPHADWI
IAMKDGTIQR EGTLKDFQRS ECQLFEHWKT LMNRQDQELE KETVTERKAT EPPQGLSRAM
SSRDGLLQDE EEEEEEAAES EEDDNLSSML HQRAEIPWRA CAKYLSSAGI LLLSLLVFSQ
LLKHMVLVAI DYWLAKWTDS ALTLTPAARN CSLSQECTLD QTVYAMVFTV LCSLGIVLCL
VTSVTVEWTG LKVAKRLHRS LLNRIILAPM RFFETTPLGS ILNRFSSDCN TIDQHIPSTL
ECLSRSTLLC VSALAVISYV TPVFLVALLP LAIVCYFIQK YFRVASRDLQ QLDDTTQLPL
LSHFAETVEG LTTIRAFRYE ARFQQKLLEY TDSNNIASLF LTAANRWLEV RMEYIGACVV
LIAAVTSISN SLHRELSAGL VGLGLTYALM VSNYLNWMVR NLADMELQLG AVKRIHGLLK
TEAESYEGLL APSLIPKNWP DQGKIQIQNL SVRYDSSLKP VLKHVNALIA PGQKIGICGR
TGSGKSSFSL AFFRMVDTFE GHIIIDGIDI AKLPLHTLRS RLSIILQDPV LFSGTIRFNL
DPERKCSDST LWEALEIAQL KLVVKALPGG LDAIITEGGE NFSQGQRQLF CLARAFVRKT
SIFIMDEATA SIDMATENIL QKVVMTAFAD RTVVTIAHRV HTILSADLVI VLKRGAILEF
DKPEKLLSRK DSVFASFVRA DK*
mutated AA sequence MPLAFCGSEN HSAAYRVDQG VLNNGCFVDA LNVVPHVFLL FITFPILFIG WGSQSSKVHI
HHSTWLHFPG HNLRWILTFM LLFVLVCEIA EGILSDGVTE SHHLHLYMPA GMAFMAAVTS
VVYYHNIETS NFPKLLIALL VYWTLAFITK TIKFVKFLDH AIGFSQLRFC LTGLLVILYG
MLLLVEDNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQVRKDIQG TQGARAIWQA LSHAFGRRLV
LSSTFRILAD LLGFAGPLCI FGIVDHLGKE NDVFQPKTQF LGVYFVSSQE FLANAYVLAV
LLFLALLLQR TFLQASYYVA IETGINLRGA IQTKIYNKIM HLSTSNLSMG EMTAGQICNL
VAIDTNQLMW FFFLCPNLWA MPVQIIVGVI LLYYILGVSA LIGAAVIILL APVQYFVATK
LSQAQRSTLE YSNERLKQTN EMLRGIKLLK LYAWENIFRT RVETTRRKEM TSLRAFAIYT
SISIFMNTAI PIAAVLITFV GHVSFFKEAD FSPSVAFASL SLFHILVTPL FLLSSVVRST
VKALVSVQKL SEFLSSAEIR EEQCAPHEPT PQGPASKYQA VPLRVVNRKR PAREDCRGLT
GPLQSLVPSA DGDADNCCVQ IMGGYFTWTP DGIPTLSNIT IRIPRGQLTM IVGQVGCGKS
SLLLAALGEM QKVSGAVFWS SSLPDSEIGE DPSPERETAT DLDIRKRGPV AYASQKPWLL
NATVEENIIF ESPFNKQRYK MVIEACSLQP DIDILPHGDQ TQIGERGINL SGGQRQRISV
ARALYQHANV VFLDDPFSAL DIHLSDHLMQ AGILELLRDD KRTVVLVTHK LQYLPHADWI
IAMKDGTIQR EGTLKDFQRS ECQLFEHWKT LMNRQDQELE KETVTERKAT EPPQGLSRAM
SSRDGLLQDE EEEEEEAAES EEDDNLSSML HQRAEIPWRA CAKYLSSAGI LLLSLLVFSQ
LLKHMVLVAI DYWLAKWTDS ALTLTPAARN CSLSQECTLD QTVYAMVFTV LCSLGIVLCL
VTSVTVEWTG LKVAKRLHRS LLNRIILAPM RFFETTPLGS ILNRFSSDCN TIDQHIPSTL
ECLSRSTLLC VSALAVISYV TPVFLVALLP LAIVCYFIQK YFRVASRDLQ QLDDTTQLPL
LSHFAETVEG LTTIRAFRYE ARFQQKLLEY TDSNNIASLF LTAANRWLEV RMEYIGACVV
LIAAVTSISN SLHRELSAGL VGLGLTYALM VSNYLNWMVR NLADMELQLG AVKRIHGLLK
TEAESYEGLL APSLIPKNWP DQGKIQIQNL SVRYDSSLKP VLKHVNALIA PGQKIGICGR
TGSGKSSFSL AFFRMVDTFE GHIIIDGIDI AKLPLHTLRS RLSIILQDPV LFSGTIRFNL
DPERKCSDST LWEALEIAQL KLVVKALPGG LDAIITEGGE NFSQGQRQLF CLARAFVRKT
SIFIMDEATA SIDMATENIL QKVVMTAFAD RTVVTIAHRV HTILSADLVI VLKRGAILEF
DKPEKLLSRK DSVFASFVRA DK*
speed 1.19 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