Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999998285589 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM981886)
  • known disease mutation: rs9095 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr11:17417206G>AN/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.4261C>T
cDNA.4387C>T
g.81244C>T
AA changes R1421C Score: 180 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1421
frameshift no
known variant Reference ID: rs28938469
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs9095 (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 CM981886)

known disease mutation at this position, please check HGMD for details (HGMD ID CM981886)
known disease mutation at this position, please check HGMD for details (HGMD ID CM981886)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)5.7391
3.8460.998
(flanking)-2.3260.012
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 increased81253wt: 0.9055 / mu: 0.9474 (marginal change - not scored)wt: CCCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGTC
mu: CCCTGCGCTCATGCCTCTCCATCATCCTGCAGGACCCCGTC		 tcca|TCAT
Acc increased81246wt: 0.55 / mu: 0.64wt: CTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAGGA
mu: CTGCACACCCTGCGCTCATGCCTCTCCATCATCCTGCAGGA		 acgc|CTCT
Acc increased81254wt: 0.40 / mu: 0.54wt: CCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGTCC
mu: CCTGCGCTCATGCCTCTCCATCATCCTGCAGGACCCCGTCC		 ccat|CATC
Acc increased81252wt: 0.63 / mu: 0.77wt: ACCCTGCGCTCACGCCTCTCCATCATCCTGCAGGACCCCGT
mu: ACCCTGCGCTCATGCCTCTCCATCATCCTGCAGGACCCCGT		 ctcc|ATCA
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1421IAKLPLHTLRSRLSIILQDPVLFS
mutated  not conserved    1421IAKLPLHTLRSCLSIILQDPVLF
Ptroglodytes  all identical  ENSPTRG00000003403  1371IAKLPLHTLRSRLSIILQDP
Mmulatta  all identical  ENSMMUG00000023581  1421IAKLPLHTLRSRLSIILQDPVLF
Fcatus  all identical  ENSFCAG00000004967  1370IAKLPLHTLRSRLSIILQDPV
Mmusculus  all identical  ENSMUSG00000040136  1427IAKLPLHTLRSRLSIILQDPVLF
Ggallus  all identical  ENSGALG00000006172  1419IAKLPLQTLRSRLSIILQDPILF
Trubripes  all identical  ENSTRUG00000005978  1421IAKLPLQTLRSRLSIILQD
Drerio  all conserved  ENSDARG00000077007  546ISKLPLQTLRSKFSIILQDPILF
Dmelanogaster  no homologue    
Celegans  not conserved  F14F4.3  1193IRTVGLVKLRRGISAIAQDPSLF
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
12981581TOPO_DOMCytoplasmic (By similarity).lost
13441578DOMAINABC transporter 2.lost
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 4261
cDNA position
(for ins/del: last normal base / first normal base)		 4387
gDNA position
(for ins/del: last normal base / first normal base)		 81244
chromosomal position
(for ins/del: last normal base / first normal base)		 17417206
original gDNA sequence snippet CGCTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAG
altered gDNA sequence snippet CGCTGCACACCCTGCGCTCATGCCTCTCCATCATCCTGCAG
original cDNA sequence snippet CGCTGCACACCCTGCGCTCACGCCTCTCCATCATCCTGCAG
altered cDNA sequence snippet CGCTGCACACCCTGCGCTCATGCCTCTCCATCATCCTGCAG
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
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 CLSIILQDPV LFSGTIRFNL
DPERKCSDST LWEALEIAQL KLVVKALPGG LDAIITEGGE NFSQGQRQLF CLARAFVRKT
SIFIMDEATA SIDMATENIL QKVVMTAFAD RTVVTIAHRV HTILSADLVI VLKRGAILEF
DKPEKLLSRK DSVFASFVRA DK*
speed 1.22 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