MutationT@ster 2025

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...
Querying Taster for transcript #1: ENST00000684571
Querying Taster for transcript #2: ENST00000647015
Querying Taster for transcript #3: ENST00000643260
Querying Taster for transcript #4: ENST00000642271
Querying Taster for transcript #5: ENST00000646902
Querying Taster for transcript #6: ENST00000389817
Querying Taster for transcript #7: ENST00000302539
Querying Taster for transcript #8: ENST00000644772
Querying Taster for transcript #9: ENST00000683136
MT speed 0.17 s - this script 2.628864 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000643260	ABCC8	Benign	126\|74	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000642271	ABCC8	Benign	140\|60	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000302539	ABCC8	Benign	140\|60	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000644772	ABCC8	Benign	140\|60	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000683136	ABCC8	Benign	148\|52	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000646902	ABCC8	Benign	152\|48	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000389817(MANE Select)	ABCC8	Benign	152\|48	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000684571	ABCC8	Benign	162\|38	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD
ENST00000647015	ABCC8	Benign	167\|33	without_aae	No	Single base exchange	Normal	Homozygous in gnomAD

MutationT@ster 2025

Variant:

11:17428382C>T_3_ENST00000643260

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 126|74 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr11:17428382C>T (GRCh38)

Gene symbol

ABCC8

Gene constraints

LOEUF: 0.86, LOF (oe): 0.74, misssense (oe): 0.83, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000643260.1

Genbank transcript ID

NM_001351296 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1944G>A
g.48513G>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799858
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	22375	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.958	1
	1.857	1
(flanking)	5.688	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

Original cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

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 DAQRKDIQGT QGARAIWQAL SHAFGRRLVL
SSTFRILADL LGFAGPLCIF GIVDHLGKEN DVFQPKTQFL GVYFVSSQEF LANAYVLAVL
LFLALLLQRT FLQASYYVAI ETGINLRGAI QTKIYNKIMH LSTSNLSMGE MTAGQICNLV
AIDTNQLMWF FFLCPNLWAM PVQIIVGVIL LYYILGVSAL IGAAVIILLA PVQYFVATKL
SQAQRSTLEY SNERLKQTNE MLRGIKLLKL YAWENIFRTR VETTRRKEMT SLRAFAIYTS
ISIFMNTAIP IAAVLITFVG HVSFFKEADF SPSVAFASLS LFHILVTPLF LLSSVVRSTV
KALVSVQKLS EFLSSAEIRE EQCAPHEPTP QGPASKYQAV PLRVVNRKRP AREDCRGLTG
PLQSLVPSAD GDADNCCVQI MGGYFTWTPD GIPTLSNITI RIPRGQLTMI VGQVGCGKSS
LLLAALGEMQ KVSGAVFWSS 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
MLLLVEVNVI RVRRYIFFKT PREVKPPEDL QDLGVRFLQP FVNLLSKGTY WWMNAFIKTA
HKKPIDLRAI GKLPIAMRAL TNYQRLCEAF DAQRKDIQGT QGARAIWQAL SHAFGRRLVL
SSTFRILADL LGFAGPLCIF GIVDHLGKEN DVFQPKTQFL GVYFVSSQEF LANAYVLAVL
LFLALLLQRT FLQASYYVAI ETGINLRGAI QTKIYNKIMH LSTSNLSMGE MTAGQICNLV
AIDTNQLMWF FFLCPNLWAM PVQIIVGVIL LYYILGVSAL IGAAVIILLA PVQYFVATKL
SQAQRSTLEY SNERLKQTNE MLRGIKLLKL YAWENIFRTR VETTRRKEMT SLRAFAIYTS
ISIFMNTAIP IAAVLITFVG HVSFFKEADF SPSVAFASLS LFHILVTPLF LLSSVVRSTV
KALVSVQKLS EFLSSAEIRE EQCAPHEPTP QGPASKYQAV PLRVVNRKRP AREDCRGLTG
PLQSLVPSAD GDADNCCVQI MGGYFTWTPD GIPTLSNITI RIPRGQLTMI VGQVGCGKSS
LLLAALGEMQ KVSGAVFWSS 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*

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

Position of start ATG in wt / mu cDNA

70 / 70

Last intron/exon boundary

4677

Theoretical NMD boundary in CDS

4557

Length of CDS

4746

Coding sequence (CDS) position

1944

cDNA position

2013

gDNA position

48513

Chromosomal position

17428382

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

11:17428382C>T_4_ENST00000642271

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 140|60 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr11:17428382C>T (GRCh38)

Gene symbol

ABCC8

Gene constraints

LOEUF: 0.84, LOF (oe): 0.73, misssense (oe): 0.83, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000642271.1

Genbank transcript ID

NM_001351297 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1944G>A
g.48513G>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799858
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	22375	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.958	1
	1.857	1
(flanking)	5.688	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

Original cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

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 DAQRKDIQGT QGARAIWQAL SHAFGRRLVL
SSTFRILADL LGFAGPLCIF GIVDHLGKEN DVFQPKTQFL GVYFVSSQEF LANAYVLAVL
LFLALLLQRT FLQASYYVAI ETGINLRGAI QTKIYNKIMH LSTSNLSMGE MTAGQICNLV
AIDTNQLMWF FFLCPNLWAM PVQIIVGVIL LYYILGVSAL IGAAVIILLA PVQYFVATKL
SQAQRSTLEY SNERLKQTNE MLRGIKLLKL YAWENIFRTR VETTRRKEMT SLRAFAIYTS
ISIFMNTAIP IAAVLITFVG HVSFFKEADF SPSVAFASLS LFHILVTPLF LLSSVVRSTV
KALVSVQKLS EFLSSAEIRE EQCAPHEPTP QGPASKYQAV PLRVVNRKRP AREDCRGLTG
PLQSLVPSAD GDADNCCVQI MGGYFTWTPD GIPTLSNITI RIPRGQLTMI VGQVGCGKSS
LLLAALGEMQ KVSGAVFWSS LPDSEIGEDP SPERETATDL DIRKRGPVAY ASQKPWLLNA
TVEENIIFES PFNKQRYKMV IEACSLQPDI DILPHGDQTQ IGERGINLSG GQRQRISVAR
ALYQHANVVF LDDPFSALDI HLSDHLMQAG ILELLRDDKR TVVLVTHKLQ YLPHADWIIA
MKDGTIQREG TLKDFQRSEC QLFEHWKTLM NRQDQELEKE TVTERKATEP PQGLSRAMSS
RDGLLQDEEE EEEEAAESEE DDNLSSMLHQ RAEIPWRACA KYLSSAGILL LSLLVFSQLL
KHMVLVAIDY WLAKWTDSAL TLTPAARNCS LSQECTLDQT VYAMVFTVLC SLGIVLCLVT
SVTVEWTGLK VAKRLHRSLL NRIILAPMRF FETTPLGSIL NRFSSDCNTI DQHIPSTLEC
LSRSTLLCVS ALAVISYVTP VFLVALLPLA IVCYFIQKYF RVASRDLQQL DDTTQLPLLS
HFAETVEGLT TIRAFRYEAR FQQKLLEYTD SNNIASLFLT AANRWLEVRM EYIGACVVLI
AAVTSISNSL HRELSAGLVG LGLTYALMVS NYLNWMVRNL ADMELQLGAV KRIHGLLKTE
AESYEGLLAP SLIPKNWPDQ GKIQIQNLSV RYDSSLKPVL KHVNALIAPG QKIGICGRTG
SGKSSFSLAF FRMVDTFEGH IIIDGIDIAK LPLHTLRSRL SIILQDPVLF SGTIRFNLDP
ERKCSDSTLW EALEIAQLKL VVKALPGGLD AIITEGGENF SQGQRQLFCL ARAFVRKTSI
FIMDEATASI DMATENILQK VVMTAFADRT VVTIAHRVHT ILSADLVIVL KRGAILEFDK
PEKLLSRKDS VFASFVRADK *

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 DAQRKDIQGT QGARAIWQAL SHAFGRRLVL
SSTFRILADL LGFAGPLCIF GIVDHLGKEN DVFQPKTQFL GVYFVSSQEF LANAYVLAVL
LFLALLLQRT FLQASYYVAI ETGINLRGAI QTKIYNKIMH LSTSNLSMGE MTAGQICNLV
AIDTNQLMWF FFLCPNLWAM PVQIIVGVIL LYYILGVSAL IGAAVIILLA PVQYFVATKL
SQAQRSTLEY SNERLKQTNE MLRGIKLLKL YAWENIFRTR VETTRRKEMT SLRAFAIYTS
ISIFMNTAIP IAAVLITFVG HVSFFKEADF SPSVAFASLS LFHILVTPLF LLSSVVRSTV
KALVSVQKLS EFLSSAEIRE EQCAPHEPTP QGPASKYQAV PLRVVNRKRP AREDCRGLTG
PLQSLVPSAD GDADNCCVQI MGGYFTWTPD GIPTLSNITI RIPRGQLTMI VGQVGCGKSS
LLLAALGEMQ KVSGAVFWSS LPDSEIGEDP SPERETATDL DIRKRGPVAY ASQKPWLLNA
TVEENIIFES PFNKQRYKMV IEACSLQPDI DILPHGDQTQ IGERGINLSG GQRQRISVAR
ALYQHANVVF LDDPFSALDI HLSDHLMQAG ILELLRDDKR TVVLVTHKLQ YLPHADWIIA
MKDGTIQREG TLKDFQRSEC QLFEHWKTLM NRQDQELEKE TVTERKATEP PQGLSRAMSS
RDGLLQDEEE EEEEAAESEE DDNLSSMLHQ RAEIPWRACA KYLSSAGILL LSLLVFSQLL
KHMVLVAIDY WLAKWTDSAL TLTPAARNCS LSQECTLDQT VYAMVFTVLC SLGIVLCLVT
SVTVEWTGLK VAKRLHRSLL NRIILAPMRF FETTPLGSIL NRFSSDCNTI DQHIPSTLEC
LSRSTLLCVS ALAVISYVTP VFLVALLPLA IVCYFIQKYF RVASRDLQQL DDTTQLPLLS
HFAETVEGLT TIRAFRYEAR FQQKLLEYTD SNNIASLFLT AANRWLEVRM EYIGACVVLI
AAVTSISNSL HRELSAGLVG LGLTYALMVS NYLNWMVRNL ADMELQLGAV KRIHGLLKTE
AESYEGLLAP SLIPKNWPDQ GKIQIQNLSV RYDSSLKPVL KHVNALIAPG QKIGICGRTG
SGKSSFSLAF FRMVDTFEGH IIIDGIDIAK LPLHTLRSRL SIILQDPVLF SGTIRFNLDP
ERKCSDSTLW EALEIAQLKL VVKALPGGLD AIITEGGENF SQGQRQLFCL ARAFVRKTSI
FIMDEATASI DMATENILQK VVMTAFADRT VVTIAHRVHT ILSADLVIVL KRGAILEFDK
PEKLLSRKDS VFASFVRADK *

Position of stopcodon in wt / mu CDS

4743 / 4743

Position (AA) of stopcodon in wt / mu AA sequence

1581 / 1581

Position of stopcodon in wt / mu cDNA

4778 / 4778

Position of start ATG in wt / mu cDNA

36 / 36

Last intron/exon boundary

4640

Theoretical NMD boundary in CDS

4554

Length of CDS

4743

Coding sequence (CDS) position

1944

cDNA position

1979

gDNA position

48513

Chromosomal position

17428382

Speed

0.01 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

11:17428382C>T_7_ENST00000302539

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 140|60 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr11:17428382C>T (GRCh38)

Gene symbol

ABCC8

Gene constraints

LOEUF: 0.84, LOF (oe): 0.73, misssense (oe): 0.83, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000302539.9

Genbank transcript ID

NM_001287174 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1947G>A
g.48513G>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799858
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	22375	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.958	1
	1.857	1
(flanking)	5.688	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

Original cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

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 RLSIILQDPV LFSGTIRFNL
DPERKCSDST LWEALEIAQL KLVVKALPGG LDAIITEGGE NFSQGQRQLF CLARAFVRKT
SIFIMDEATA SIDMATENIL QKVVMTAFAD RTVVTIAHRV HTILSADLVI VLKRGAILEF
DKPEKLLSRK DSVFASFVRA DK*

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

4818 / 4818

Position of start ATG in wt / mu cDNA

70 / 70

Last intron/exon boundary

4680

Theoretical NMD boundary in CDS

4560

Length of CDS

4749

Coding sequence (CDS) position

1947

cDNA position

2016

gDNA position

48513

Chromosomal position

17428382

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

11:17428382C>T_8_ENST00000644772

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 140|60 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr11:17428382C>T (GRCh38)

Gene symbol

ABCC8

Gene constraints

LOEUF: 0.82, LOF (oe): 0.71, misssense (oe): 0.83, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000644772.1

Genbank transcript ID

NM_001351295 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2013G>A
g.48513G>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799858
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	22375	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.958	1
	1.857	1
(flanking)	5.688	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

Original cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

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 VEEGLPSLHS SQPSGSSPPN
HPQPLRVVNR KRPAREDCRG LTGPLQSLVP SADGDADNCC VQIMGGYFTW TPDGIPTLSN
ITIRIPRGQL TMIVGQVGCG KSSLLLAALG EMQKVSGAVF WSSLPDSEIG EDPSPERETA
TDLDIRKRGP VAYASQKPWL LNATVEENII FESPFNKQRY KMVIEACSLQ PDIDILPHGD
QTQIGERGIN LSGGQRQRIS VARALYQHAN VVFLDDPFSA LDIHLSDHLM QAGILELLRD
DKRTVVLVTH KLQYLPHADW IIAMKDGTIQ REGTLKDFQR SECQLFEHWK TLMNRQDQEL
EKETVTERKA TEPPQGLSRA MSSRDGLLQD EEEEEEEAAE SEEDDNLSSM LHQRAEIPWR
ACAKYLSSAG ILLLSLLVFS QLLKHMVLVA IDYWLAKWTD SALTLTPAAR NCSLSQECTL
DQTVYAMVFT VLCSLGIVLC LVTSVTVEWT GLKVAKRLHR SLLNRIILAP MRFFETTPLG
SILNRFSSDC NTIDQHIPST LECLSRSTLL CVSALAVISY VTPVFLVALL PLAIVCYFIQ
KYFRVASRDL QQLDDTTQLP LLSHFAETVE GLTTIRAFRY EARFQQKLLE YTDSNNIASL
FLTAANRWLE VRMEYIGACV VLIAAVTSIS NSLHRELSAG LVGLGLTYAL MVSNYLNWMV
RNLADMELQL GAVKRIHGLL KTEAESYEGL LAPSLIPKNW PDQGKIQIQN LSVRYDSSLK
PVLKHVNALI APGQKIGICG RTGSGKSSFS LAFFRMVDTF EGHIIIDGID IAKLPLHTLR
SRLSIILQDP VLFSGTIRFN LDPERKCSDS TLWEALEIAQ LKLVVKALPG GLDAIITEGG
ENFSQGQRQL FCLARAFVRK TSIFIMDEAT ASIDMATENI LQKVVMTAFA DRTVVTIAHR
VHTILSADLV IVLKRGAILE FDKPEKLLSR KDSVFASFVR ADK*

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 VEEGLPSLHS SQPSGSSPPN
HPQPLRVVNR KRPAREDCRG LTGPLQSLVP SADGDADNCC VQIMGGYFTW TPDGIPTLSN
ITIRIPRGQL TMIVGQVGCG KSSLLLAALG EMQKVSGAVF WSSLPDSEIG EDPSPERETA
TDLDIRKRGP VAYASQKPWL LNATVEENII FESPFNKQRY KMVIEACSLQ PDIDILPHGD
QTQIGERGIN LSGGQRQRIS VARALYQHAN VVFLDDPFSA LDIHLSDHLM QAGILELLRD
DKRTVVLVTH KLQYLPHADW IIAMKDGTIQ REGTLKDFQR SECQLFEHWK TLMNRQDQEL
EKETVTERKA TEPPQGLSRA MSSRDGLLQD EEEEEEEAAE SEEDDNLSSM LHQRAEIPWR
ACAKYLSSAG ILLLSLLVFS QLLKHMVLVA IDYWLAKWTD SALTLTPAAR NCSLSQECTL
DQTVYAMVFT VLCSLGIVLC LVTSVTVEWT GLKVAKRLHR SLLNRIILAP MRFFETTPLG
SILNRFSSDC NTIDQHIPST LECLSRSTLL CVSALAVISY VTPVFLVALL PLAIVCYFIQ
KYFRVASRDL QQLDDTTQLP LLSHFAETVE GLTTIRAFRY EARFQQKLLE YTDSNNIASL
FLTAANRWLE VRMEYIGACV VLIAAVTSIS NSLHRELSAG LVGLGLTYAL MVSNYLNWMV
RNLADMELQL GAVKRIHGLL KTEAESYEGL LAPSLIPKNW PDQGKIQIQN LSVRYDSSLK
PVLKHVNALI APGQKIGICG RTGSGKSSFS LAFFRMVDTF EGHIIIDGID IAKLPLHTLR
SRLSIILQDP VLFSGTIRFN LDPERKCSDS TLWEALEIAQ LKLVVKALPG GLDAIITEGG
ENFSQGQRQL FCLARAFVRK TSIFIMDEAT ASIDMATENI LQKVVMTAFA DRTVVTIAHR
VHTILSADLV IVLKRGAILE FDKPEKLLSR KDSVFASFVR ADK*

Position of stopcodon in wt / mu CDS

4812 / 4812

Position (AA) of stopcodon in wt / mu AA sequence

1604 / 1604

Position of stopcodon in wt / mu cDNA

4843 / 4843

Position of start ATG in wt / mu cDNA

32 / 32

Last intron/exon boundary

4705

Theoretical NMD boundary in CDS

4623

Length of CDS

4812

Coding sequence (CDS) position

2013

cDNA position

2044

gDNA position

48513

Chromosomal position

17428382

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

11:17428382C>T_9_ENST00000683136

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 148|52 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr11:17428382C>T (GRCh38)

Gene symbol

ABCC8

Gene constraints

LOEUF: 0.85, LOF (oe): 0.74, misssense (oe): 0.83, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000683136.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1944G>A
g.48513G>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799858
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	22375	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.958	1
	1.857	1
(flanking)	5.688	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

Original cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

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 DAQRKDIQGT QGARAIWQAL SHAFGRRLVL
SSTFRILADL LGFAGPLCIF GIVDHLGKEN DVFQPKTQFL GVYFVSSQEF LANAYVLAVL
LFLALLLQRT FLQASYYVAI ETGINLRGAI QTKIYNKIMH LSTSNLSMGE MTAGQICNLV
AIDTNQLMWF FFLCPNLWAM PVQIIVGVIL LYYILGVSAL IGAAVIILLA PVQYFVATKL
SQAQRSTLEY SNERLKQTNE MLRGIKLLKL YAWENIFRTR VETTRRKEMT SLRAFAIYTS
ISIFMNTAIP IAAVLITFVG HVSFFKEADF SPSVAFASLS LFHILVTPLF LLSSVVRSTV
KALVSVQKLS EFLSSAEIRE EQCAPHEPTP QGPASKYQAV PLRVVNRKRP AREDCRGLTG
PLQSLVPSAD GDADNCCVQI MGGYFTWTPD GIPTLSNITI RIPRGQLTMI VGQVGCGKSS
LLLAALGEMQ KVSGAVFWSS LPDSEIGEDP SPERETATDL DIRKRGPVAY ASQKPWLLNA
TVEENIIFES PFNKQRYKMV IEACSLQPDI DILPHGDQTQ IGERGINLSG GQRQRISVAR
ALYQHANVVF LDDPFSALDI HLSDHLMQAG ILELLRDDKR TVVLVTHKLQ YLPHADWIIA
MKDGTIQREG TLKDFQRSEC QLFEHWKTLM NRQDQELEKE TVTERKATEP PQGLSRAMSS
RDGLLQDEEE EEEEAAESEE DDNLSSMLHQ RAEIPWRACA KYLSSAGILL LSLLVFSQLL
KHMVLVAIDY WLAKWTDSAL TLTPAARNCS LSQECTLDQT VYAMVFTVLC SLGIVLCLVT
SVTVEWTGLK VAKRLHRSLL NRIILAPMRF FETTPLGSIL NRFSSDCNTI DQHIPSTLEC
LSRSTLLCVS ALAVISYVTP VFLVALLPLA IVCYFIQKYF RVASRDLQQL DDTTQLPLLS
HFAETVEGLT TIRAFRYEAR FQQKLLEYTD SNNIASLFLT AANRWLEVRM 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 DAQRKDIQGT QGARAIWQAL SHAFGRRLVL
SSTFRILADL LGFAGPLCIF GIVDHLGKEN DVFQPKTQFL GVYFVSSQEF LANAYVLAVL
LFLALLLQRT FLQASYYVAI ETGINLRGAI QTKIYNKIMH LSTSNLSMGE MTAGQICNLV
AIDTNQLMWF FFLCPNLWAM PVQIIVGVIL LYYILGVSAL IGAAVIILLA PVQYFVATKL
SQAQRSTLEY SNERLKQTNE MLRGIKLLKL YAWENIFRTR VETTRRKEMT SLRAFAIYTS
ISIFMNTAIP IAAVLITFVG HVSFFKEADF SPSVAFASLS LFHILVTPLF LLSSVVRSTV
KALVSVQKLS EFLSSAEIRE EQCAPHEPTP QGPASKYQAV PLRVVNRKRP AREDCRGLTG
PLQSLVPSAD GDADNCCVQI MGGYFTWTPD GIPTLSNITI RIPRGQLTMI VGQVGCGKSS
LLLAALGEMQ KVSGAVFWSS LPDSEIGEDP SPERETATDL DIRKRGPVAY ASQKPWLLNA
TVEENIIFES PFNKQRYKMV IEACSLQPDI DILPHGDQTQ IGERGINLSG GQRQRISVAR
ALYQHANVVF LDDPFSALDI HLSDHLMQAG ILELLRDDKR TVVLVTHKLQ YLPHADWIIA
MKDGTIQREG TLKDFQRSEC QLFEHWKTLM NRQDQELEKE TVTERKATEP PQGLSRAMSS
RDGLLQDEEE EEEEAAESEE DDNLSSMLHQ RAEIPWRACA KYLSSAGILL LSLLVFSQLL
KHMVLVAIDY WLAKWTDSAL TLTPAARNCS LSQECTLDQT VYAMVFTVLC SLGIVLCLVT
SVTVEWTGLK VAKRLHRSLL NRIILAPMRF FETTPLGSIL NRFSSDCNTI DQHIPSTLEC
LSRSTLLCVS ALAVISYVTP VFLVALLPLA IVCYFIQKYF RVASRDLQQL DDTTQLPLLS
HFAETVEGLT TIRAFRYEAR FQQKLLEYTD SNNIASLFLT AANRWLEVRM 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*

Position of stopcodon in wt / mu CDS

4629 / 4629

Position (AA) of stopcodon in wt / mu AA sequence

1543 / 1543

Position of stopcodon in wt / mu cDNA

4725 / 4725

Position of start ATG in wt / mu cDNA

97 / 97

Last intron/exon boundary

4587

Theoretical NMD boundary in CDS

4440

Length of CDS

4629

Coding sequence (CDS) position

1944

cDNA position

2040

gDNA position

48513

Chromosomal position

17428382

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

11:17428382C>T_5_ENST00000646902

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 152|48 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr11:17428382C>T (GRCh38)

Gene symbol

ABCC8

Gene constraints

LOEUF: 0.83, LOF (oe): 0.72, misssense (oe): 0.83, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000646902.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1944G>A
g.48513G>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799858
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	22375	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.958	1
	1.857	1
(flanking)	5.688	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

Original cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

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 DAQRKDIQGT QGARAIWQAL SHAFGRRLVL
SSTFRILADL LGFAGPLCIF GIVDHLGKEN DVFQPKTQFL GVYFVSSQEF LANAYVLAVL
LFLALLLQRT FLQASYYVAI ETGINLRGAI QTKIYNKIMH LSTSNLSMGE MTAGQICNLV
AIDTNQLMWF FFLCPNLWAM PVQIIVGVIL LYYILGVSAL IGAAVIILLA PVQYFVATKL
SQAQRSTLEY SNERLKQTNE MLRGIKLLKL YAWENIFRTR VETTRRKEMT SLRAFAIYTS
ISIFMNTAIP IAAVLITFVG HVSFFKEADF SPSVAFASLS LFHILVTPLF LLSSVVRSTV
KALVSVQKLS EFLSSAEIRE EQCAPHEPTP QGPASKYQAV PLRVVNRKRP AREDCRGLTG
PLQSLVPSAD GDADNCCVQI MGGYFTWTPD GIPTLSNITI RIPRGQLTMI VGQVGCGKSS
LLLAALGEMQ KVSGAVFWSS LPDSEIGEDP SPERETATDL DIRKRGPVAY ASQKPWLLNA
TVEENIIFES PFNKQRYKMV IEACSLQPDI DILPHGDQTQ IGERGINLSG GQRQRISVAR
ALYQHANVVF LDDPFSALDI HLSDHLMQAG ILELLRDDKR TVVLVTHKLQ YLPHADWIIA
MKDGTIQREG TLKDFQRSEC QLFEHWKTLM NRQDQELEKE TVTERKATEP PQGLSRAMSS
RDGLLQDEEE EEEEAAESEE DDNLSSMLHQ RAEIPWRACA KYLSSAGILL LSLLVFSQLL
KHMVLVAIDY WLAKWTDSAL TLTPAARNCS LSQECTLDQT VYAMVFTVLC SLGIVLCLVT
SVTVEWTGLK VAKRLHRSLL NRIILAPMRF FETTPLGSIL NRFSSDCNTI DQHIPSTLEC
LSRSTLLCVS ALAVISYVTP VFLVALLPLA IVCYFIQKYF RVASRDLQQL DDTTQLPLLS
HFAETVEGLT TIRAFRYEAR FQQKLLEYTD SNNIASLFLT AANRWLEVRM EYIGACVVLI
AAVTSISNSL HRELSAGLVG LGLTYALMVS NYLNWMVRNL ADMELQLGAV KRIHGLLKTE
AESYEGLLDQ GKIQIQNLSV RYDSSLKPVL KHVNALIAPG QKIGICGRTG SGKSSFSLAF
FRMVDTFEGH IIIDGIDIAK LPLHTLRSRL SIILQDPVLF SGTIRFNLDP ERKCSDSTLW
EALEIAQLKL VVKALPGGLD AIITEGGENF SQGQRQLFCL ARAFVRKTSI FIMDEATASI
DMATENILQK VVMTAFADRT VVTIAHRVHT ILSADLVIVL KRGAILEFDK PEKLLSRKDS
VFASFVRADK *

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 DAQRKDIQGT QGARAIWQAL SHAFGRRLVL
SSTFRILADL LGFAGPLCIF GIVDHLGKEN DVFQPKTQFL GVYFVSSQEF LANAYVLAVL
LFLALLLQRT FLQASYYVAI ETGINLRGAI QTKIYNKIMH LSTSNLSMGE MTAGQICNLV
AIDTNQLMWF FFLCPNLWAM PVQIIVGVIL LYYILGVSAL IGAAVIILLA PVQYFVATKL
SQAQRSTLEY SNERLKQTNE MLRGIKLLKL YAWENIFRTR VETTRRKEMT SLRAFAIYTS
ISIFMNTAIP IAAVLITFVG HVSFFKEADF SPSVAFASLS LFHILVTPLF LLSSVVRSTV
KALVSVQKLS EFLSSAEIRE EQCAPHEPTP QGPASKYQAV PLRVVNRKRP AREDCRGLTG
PLQSLVPSAD GDADNCCVQI MGGYFTWTPD GIPTLSNITI RIPRGQLTMI VGQVGCGKSS
LLLAALGEMQ KVSGAVFWSS LPDSEIGEDP SPERETATDL DIRKRGPVAY ASQKPWLLNA
TVEENIIFES PFNKQRYKMV IEACSLQPDI DILPHGDQTQ IGERGINLSG GQRQRISVAR
ALYQHANVVF LDDPFSALDI HLSDHLMQAG ILELLRDDKR TVVLVTHKLQ YLPHADWIIA
MKDGTIQREG TLKDFQRSEC QLFEHWKTLM NRQDQELEKE TVTERKATEP PQGLSRAMSS
RDGLLQDEEE EEEEAAESEE DDNLSSMLHQ RAEIPWRACA KYLSSAGILL LSLLVFSQLL
KHMVLVAIDY WLAKWTDSAL TLTPAARNCS LSQECTLDQT VYAMVFTVLC SLGIVLCLVT
SVTVEWTGLK VAKRLHRSLL NRIILAPMRF FETTPLGSIL NRFSSDCNTI DQHIPSTLEC
LSRSTLLCVS ALAVISYVTP VFLVALLPLA IVCYFIQKYF RVASRDLQQL DDTTQLPLLS
HFAETVEGLT TIRAFRYEAR FQQKLLEYTD SNNIASLFLT AANRWLEVRM EYIGACVVLI
AAVTSISNSL HRELSAGLVG LGLTYALMVS NYLNWMVRNL ADMELQLGAV KRIHGLLKTE
AESYEGLLDQ GKIQIQNLSV RYDSSLKPVL KHVNALIAPG QKIGICGRTG SGKSSFSLAF
FRMVDTFEGH IIIDGIDIAK LPLHTLRSRL SIILQDPVLF SGTIRFNLDP ERKCSDSTLW
EALEIAQLKL VVKALPGGLD AIITEGGENF SQGQRQLFCL ARAFVRKTSI FIMDEATASI
DMATENILQK VVMTAFADRT VVTIAHRVHT ILSADLVIVL KRGAILEFDK PEKLLSRKDS
VFASFVRADK *

Position of stopcodon in wt / mu CDS

4713 / 4713

Position (AA) of stopcodon in wt / mu AA sequence

1571 / 1571

Position of stopcodon in wt / mu cDNA

4781 / 4781

Position of start ATG in wt / mu cDNA

69 / 69

Last intron/exon boundary

4643

Theoretical NMD boundary in CDS

4524

Length of CDS

4713

Coding sequence (CDS) position

1944

cDNA position

2012

gDNA position

48513

Chromosomal position

17428382

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

11:17428382C>T_6_ENST00000389817

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 152|48 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr11:17428382C>T (GRCh38)

Gene symbol

ABCC8

Gene constraints

LOEUF: 0.83, LOF (oe): 0.72, misssense (oe): 0.83, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000389817.8

Genbank transcript ID

NM_000352 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1947G>A
g.48513G>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799858
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	22375	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.958	1
	1.857	1
(flanking)	5.688	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

Original cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

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
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*

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

Position of start ATG in wt / mu cDNA

70 / 70

Last intron/exon boundary

4677

Theoretical NMD boundary in CDS

4557

Length of CDS

4746

Coding sequence (CDS) position

1947

cDNA position

2016

gDNA position

48513

Chromosomal position

17428382

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

11:17428382C>T_1_ENST00000684571

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 162|38 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr11:17428382C>T (GRCh38)

Gene symbol

ABCC8

Gene constraints

LOEUF: 0.87, LOF (oe): 0.76, misssense (oe): 0.84, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000684571.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1788G>A
g.48513G>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799858
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	22375	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.958	1
	1.857	1
(flanking)	5.688	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

Original cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

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 DAQRKDIQGT QGARAIWQAL SHAFGRRLVL
SSTFRILADL LGFAGPLCIF GIVDHLGKEN DVFQPKTQFL GVYFVSSQEF LANAYVLAVL
LFLALLLQRT FLQASYYVAI ETGINLRGAI QIIVGVILLY YILGVSALIG AAVIILLAPV
QYFVATKLSQ AQRSTLEYSN ERLKQTNEML RGIKLLKLYA WENIFRTRVE TTRRKEMTSL
RAFAIYTSIS IFMNTAIPIA AVLITFVGHV SFFKEADFSP SVAFASLSLF HILVTPLFLL
SSVVRSTVKA LVSVQKLSEF LSSAEIREEQ CAPHEPTPQG PASKYQAVPL RVVNRKRPAR
EDCRGLTGPL QSLVPSADGD ADNCCVQIMG GYFTWTPDGI PTLSNITIRI PRGQLTMIVG
QVGCGKSSLL LAALGEMQKV SGAVFWSSLP DSEIGEDPSP ERETATDLDI RKRGPVAYAS
QKPWLLNATV EENIIFESPF NKQRYKMVIE ACSLQPDIDI LPHGDQTQIG ERGINLSGGQ
RQRISVARAL YQHANVVFLD DPFSALDIHL SDHLMQAGIL ELLRDDKRTV VLVTHKLQYL
PHADWIIAMK DGTIQREGTL KDFQRSECQL FEHWKTLMNR QDQELEKETV TERKATEPPQ
GLSRAMSSRD GLLQDEEEEE EEAAESEEDD NLSSMLHQRA EIPWRACAKY LSSAGILLLS
LLVFSQLLKH MVLVAIDYWL AKWTDSALTL TPAARNCSLS QECTLDQTVY AMVFTVLCSL
GIVLCLVTSV TVEWTGLKVA KRLHRSLLNR IILAPMRFFE TTPLGSILNR FSSDCNTIDQ
HIPSTLECLS RSTLLCVSAL AVISYVTPVF LVALLPLAIV CYFIQKYFRV ASRDLQQLDD
TTQLPLLSHF AETVEGLTTI RAFRYEARFQ QKLLEYTDSN NIASLFLTAA NRWLEVRMEY
IGACVVLIAA VTSISNSLHR ELSAGLVGLG LTYALMVSNY LNWMVRNLAD MELQLGAVKR
IHGLLKTEAE SYEGLLAPSL IPKNWPDQGK IQIQNLSVRY DSSLKPVLKH VNALIAPGQK
IGICGRTGSG KSSFSLAFFR MVDTFEGHII IDGIDIAKLP LHTLRSRLSI ILQDPVLFSG
TIRFNLDPER KCSDSTLWEA LEIAQLKLVV KALPGGLDAI ITEGGENFSQ GQRQLFCLAR
AFVRKTSIFI MDEATASIDM ATENILQKVV MTAFADRTVV TIAHRVHTIL SADLVIVLKR
GAILEFDKPE KLLSRKDSVF ASFVRADK*

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 DAQRKDIQGT QGARAIWQAL SHAFGRRLVL
SSTFRILADL LGFAGPLCIF GIVDHLGKEN DVFQPKTQFL GVYFVSSQEF LANAYVLAVL
LFLALLLQRT FLQASYYVAI ETGINLRGAI QIIVGVILLY YILGVSALIG AAVIILLAPV
QYFVATKLSQ AQRSTLEYSN ERLKQTNEML RGIKLLKLYA WENIFRTRVE TTRRKEMTSL
RAFAIYTSIS IFMNTAIPIA AVLITFVGHV SFFKEADFSP SVAFASLSLF HILVTPLFLL
SSVVRSTVKA LVSVQKLSEF LSSAEIREEQ CAPHEPTPQG PASKYQAVPL RVVNRKRPAR
EDCRGLTGPL QSLVPSADGD ADNCCVQIMG GYFTWTPDGI PTLSNITIRI PRGQLTMIVG
QVGCGKSSLL LAALGEMQKV SGAVFWSSLP DSEIGEDPSP ERETATDLDI RKRGPVAYAS
QKPWLLNATV EENIIFESPF NKQRYKMVIE ACSLQPDIDI LPHGDQTQIG ERGINLSGGQ
RQRISVARAL YQHANVVFLD DPFSALDIHL SDHLMQAGIL ELLRDDKRTV VLVTHKLQYL
PHADWIIAMK DGTIQREGTL KDFQRSECQL FEHWKTLMNR QDQELEKETV TERKATEPPQ
GLSRAMSSRD GLLQDEEEEE EEAAESEEDD NLSSMLHQRA EIPWRACAKY LSSAGILLLS
LLVFSQLLKH MVLVAIDYWL AKWTDSALTL TPAARNCSLS QECTLDQTVY AMVFTVLCSL
GIVLCLVTSV TVEWTGLKVA KRLHRSLLNR IILAPMRFFE TTPLGSILNR FSSDCNTIDQ
HIPSTLECLS RSTLLCVSAL AVISYVTPVF LVALLPLAIV CYFIQKYFRV ASRDLQQLDD
TTQLPLLSHF AETVEGLTTI RAFRYEARFQ QKLLEYTDSN NIASLFLTAA NRWLEVRMEY
IGACVVLIAA VTSISNSLHR ELSAGLVGLG LTYALMVSNY LNWMVRNLAD MELQLGAVKR
IHGLLKTEAE SYEGLLAPSL IPKNWPDQGK IQIQNLSVRY DSSLKPVLKH VNALIAPGQK
IGICGRTGSG KSSFSLAFFR MVDTFEGHII IDGIDIAKLP LHTLRSRLSI ILQDPVLFSG
TIRFNLDPER KCSDSTLWEA LEIAQLKLVV KALPGGLDAI ITEGGENFSQ GQRQLFCLAR
AFVRKTSIFI MDEATASIDM ATENILQKVV MTAFADRTVV TIAHRVHTIL SADLVIVLKR
GAILEFDKPE KLLSRKDSVF ASFVRADK*

Position of stopcodon in wt / mu CDS

4587 / 4587

Position (AA) of stopcodon in wt / mu AA sequence

1529 / 1529

Position of stopcodon in wt / mu cDNA

4628 / 4628

Position of start ATG in wt / mu cDNA

42 / 42

Last intron/exon boundary

4490

Theoretical NMD boundary in CDS

4398

Length of CDS

4587

Coding sequence (CDS) position

1788

cDNA position

1829

gDNA position

48513

Chromosomal position

17428382

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

Back to summary table

MutationT@ster 2025

Variant:

11:17428382C>T_2_ENST00000647015

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 167|33 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr11:17428382C>T (GRCh38)

Gene symbol

ABCC8

Gene constraints

LOEUF: 0.87, LOF (oe): 0.75, misssense (oe): 0.83, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000647015.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1695G>A
g.48513G>A

AA changes

no AA changes

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799858
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	22375	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.958	1
	1.857	1
(flanking)	5.688	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

11

Strand

-1

Original gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered gDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

Original cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAGCGTCCAGCCCGGGAGGATTG

Altered cDNA sequence snippet

CTCAGGGTTGTGAACCGCAAACGTCCAGCCCGGGAGGATTG

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 PIAAVLIPLR VVNRKRPARE DCRGLTGPLQ SLVPSADGDA DNCCVQIMGG
YFTWTPDGIP TLSNITIRIP RGQLTMIVGQ VGCGKSSLLL AALGEMQKVS GAVFWSSSLP
DSEIGEDPSP ERETATDLDI RKRGPVAYAS QKPWLLNATV EENIIFESPF NKQRYKMVIE
ACSLQPDIDI LPHGDQTQIG ERGINLSGGQ RQRISVARAL YQHANVVFLD DPFSALDIHL
SDHLMQAGIL ELLRDDKRTV VLVTHKLQYL PHADWIIAMK DGTIQREGTL KDFQRSECQL
FEHWKTLMNR QDQELEKETV TERKATEPPQ GLSRAMSSRD GLLQDEEEEE EEAAESEEDD
NLSSMLHQRA EIPWRACAKY LSSAGILLLS LLVFSQLLKH MVLVAIDYWL AKWTDSALTL
TPAARNCSLS QECTLDQTVY AMVFTVLCSL GIVLCLVTSV TVEWTGLKVA KRLHRSLLNR
IILAPMRFFE TTPLGSILNR FSSDCNTIDQ HIPSTLECLS RSTLLCVSAL AVISYVTPVF
LVALLPLAIV CYFIQKYFRV ASRDLQQLDD TTQLPLLSHF AETVEGLTTI RAFRYEARFQ
QKLLEYTDSN NIASLFLTAA NRWLEVRMEY IGACVVLIAA VTSISNSLHR ELSAGLVGLG
LTYALMVSNY LNWMVRNLAD MELQLGAVKR IHGLLKTEAE SYEGLLAPSL IPKNWPDQGK
IQIQNLSVRY DSSLKPVLKH VNALIAPGQK IGICGRTGSG KSSFSLAFFR MVDTFEGHII
IDGIDIAKLP LHTLRSRLSI ILQDPVLFSG TIRFNLDPER KCSDSTLWEA LEIAQLKLVV
KALPGGLDAI ITEGGENFSQ GQRQLFCLAR AFVRKTSIFI MDEATASIDM ATENILQKVV
MTAFADRTVV TIAHRVHTIL SADLVIVLKR GAILEFDKPE KLLSRKDSVF ASFVRADK*

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 PIAAVLIPLR VVNRKRPARE DCRGLTGPLQ SLVPSADGDA DNCCVQIMGG
YFTWTPDGIP TLSNITIRIP RGQLTMIVGQ VGCGKSSLLL AALGEMQKVS GAVFWSSSLP
DSEIGEDPSP ERETATDLDI RKRGPVAYAS QKPWLLNATV EENIIFESPF NKQRYKMVIE
ACSLQPDIDI LPHGDQTQIG ERGINLSGGQ RQRISVARAL YQHANVVFLD DPFSALDIHL
SDHLMQAGIL ELLRDDKRTV VLVTHKLQYL PHADWIIAMK DGTIQREGTL KDFQRSECQL
FEHWKTLMNR QDQELEKETV TERKATEPPQ GLSRAMSSRD GLLQDEEEEE EEAAESEEDD
NLSSMLHQRA EIPWRACAKY LSSAGILLLS LLVFSQLLKH MVLVAIDYWL AKWTDSALTL
TPAARNCSLS QECTLDQTVY AMVFTVLCSL GIVLCLVTSV TVEWTGLKVA KRLHRSLLNR
IILAPMRFFE TTPLGSILNR FSSDCNTIDQ HIPSTLECLS RSTLLCVSAL AVISYVTPVF
LVALLPLAIV CYFIQKYFRV ASRDLQQLDD TTQLPLLSHF AETVEGLTTI RAFRYEARFQ
QKLLEYTDSN NIASLFLTAA NRWLEVRMEY IGACVVLIAA VTSISNSLHR ELSAGLVGLG
LTYALMVSNY LNWMVRNLAD MELQLGAVKR IHGLLKTEAE SYEGLLAPSL IPKNWPDQGK
IQIQNLSVRY DSSLKPVLKH VNALIAPGQK IGICGRTGSG KSSFSLAFFR MVDTFEGHII
IDGIDIAKLP LHTLRSRLSI ILQDPVLFSG TIRFNLDPER KCSDSTLWEA LEIAQLKLVV
KALPGGLDAI ITEGGENFSQ GQRQLFCLAR AFVRKTSIFI MDEATASIDM ATENILQKVV
MTAFADRTVV TIAHRVHTIL SADLVIVLKR GAILEFDKPE KLLSRKDSVF ASFVRADK*

Position of stopcodon in wt / mu CDS

4497 / 4497

Position (AA) of stopcodon in wt / mu AA sequence

1499 / 1499

Position of stopcodon in wt / mu cDNA

4565 / 4565

Position of start ATG in wt / mu cDNA

69 / 69

Last intron/exon boundary

4427

Theoretical NMD boundary in CDS

4308

Length of CDS

4497

Coding sequence (CDS) position

1695

cDNA position

1763

gDNA position

48513

Chromosomal position

17428382

Speed

0.02 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
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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