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: ENST00000261200
Querying Taster for transcript #2: ENST00000261201
Querying Taster for transcript #3: ENST00000683676
Querying Taster for transcript #4: ENST00000684084
Querying Taster for transcript #5: ENST00000682068
MT speed 0.06 s - this script 2.424607 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000683676	ABCC9	Deleterious	164\|36	without_aae	Yes	Single base exchange	N/A	Splice site changes
ENST00000682068	ABCC9	Deleterious	166\|34	without_aae	Yes	Single base exchange	N/A	Splice site changes
ENST00000261201	ABCC9	Deleterious	171\|29	without_aae	Yes	Single base exchange	N/A	Splice site changes
ENST00000684084	ABCC9	Deleterious	171\|29	without_aae	Yes	Single base exchange	N/A	Splice site changes
ENST00000261200(MANE Select)	ABCC9	Deleterious	174\|26	without_aae	Yes	Single base exchange	N/A	Splice site changes

MutationT@ster 2025

Variant:

12:21908073T>G_3_ENST00000683676

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site changes

Model: without_aae
Tree vote: 164|36 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:21908073T>G (GRCh38)

Gene symbol

ABCC9

Gene constraints

LOEUF: 0.59, LOF (oe): 0.48, misssense (oe): 0.55, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000683676.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1455+4A>C
g.34471A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs376587222
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	52	52

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.932	1
	3.999	1
(flanking)	1.244	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	34467	wt: 8.00 / mu: 5.14	-	wt: AAGTACACTT\|gtaagtaaca mu: AAGTACACTT\|gtacgtaaca

Distance from splice site

4

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

CTCAGAAAAGTACACTTGTAAGTAACATCTTTTGGAAACTT

Altered gDNA sequence snippet

CTCAGAAAAGTACACTTGTACGTAACATCTTTTGGAAACTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG SQSSKVQIHH
NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR HLHLFMPAVM GFVATTTSIV
YYHNIETSNF PKLLLALFLY WVMAFITKTI KLVKYCQSGL DISNLRFCIT GMMVILNGLL
MAVEINVIRV RRYVFFMNPQ KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK
KPIDLKAIGK LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS
STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN AYVLAVLLFL
ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST SNLSMGEMTL GQINNLVAIE
TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN LLGSSALVGA AVIVLLAPIQ YFIATKLAEA
QKSTLDYSTE RLKKTNEILK GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI
FMNAAIPIAA VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII
SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY HLDSYEQSTR
RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL TMIVGQVGCG KSSLLLAILG
EMQTLEGKVH WSNVNESEPS FEATRSRNRY SVAYAAQKPW LLNATVEENI TFGSPFNKQR
YKAVTDACSL QPDIDLLPFG DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLDDPFS
ALDIHLSDHL MQEGILKFLQ DDKRTLVLVT HKLQYLTHAD WIIAMKDGSV LREGTLKDIQ
TKDVELYEHW KTLMNRQDQE LEKDMEADQT TLERKTLRRA MYSREAKAQM EDEDEEEEEE
EDEDDNMSTV MRLRTKMPWK TCWRYLTSGG FFLLILMIFS KLLKHSVIVA IDYWLATWTS
EYSINNTGKA DQTYYVAGFS ILCGAGIFLC LVTSLTVEWM GLTAAKNLHH NLLNKIILGP
IRFFDTTPLG LILNRFSADT NIIDQHIPPT LESLTRSTLL CLSAIGMISY ATPVFLVALL
PLGVAFYFIQ KYFRVASKDL QELDDSTQLP LLCHFSETAE GLTTIRAFRH ETRFKQRMLE
LTDTNNIAYL FLSAANRWLE VRTDYLGACI VLTASIASIS GSSNSGLVGL GLLYALTITN
YLNWVVRNLA DLEVQMGAVK KVNSFLTMES ENYEGTMDPS QVPEHWPQEG EIKIHDLCVR
YENNLKPVLK HVKAYIKPGQ KVGICGRTGS GKSSLSLAFF RMVDIFDGKI VIDGIDISKL
PLHTLRSRLS IILQDPILFS GSIRYISQCY PSPLPPPHHS PQSVIFPFLC PCDLIVQFPP
MSENMRCLVF CSCDSLLRMM VSSFIHVPTK DMNSSFCMAA *

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

365 / 365

Last intron/exon boundary

4575

Theoretical NMD boundary in CDS

4160

Length of CDS

4443

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

34471

Chromosomal position

21908073

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:

12:21908073T>G_5_ENST00000682068

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site changes

Model: without_aae
Tree vote: 166|34 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:21908073T>G (GRCh38)

Gene symbol

ABCC9

Gene constraints

LOEUF: 0.58, LOF (oe): 0.47, misssense (oe): 0.56, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000682068.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1455+4A>C
g.34471A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs376587222
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	52	52

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.932	1
	3.999	1
(flanking)	1.244	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	34467	wt: 8.00 / mu: 5.14	-	wt: AAGTACACTT\|gtaagtaaca mu: AAGTACACTT\|gtacgtaaca

Distance from splice site

4

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

CTCAGAAAAGTACACTTGTAAGTAACATCTTTTGGAAACTT

Altered gDNA sequence snippet

CTCAGAAAAGTACACTTGTACGTAACATCTTTTGGAAACTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG SQSSKVQIHH
NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR HLHLFMPAVM GFVATTTSIV
YYHNIETSNF PKLLLALFLY WVMAFITKTI KLVKYCQSGL DISNLRFCIT GMMVILNGLL
MAVEINVIRV RRYVFFMNPQ KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK
KPIDLKAIGK LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS
STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN AYVLAVLLFL
ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST SNLSMGEMTL GQINNLVAIE
TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN LLGSSALVGA AVIVLLAPIQ YFIATKLAEA
QKSTLDYSTE RLKKTNEILK GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI
FMNAAIPIAA VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII
SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY HLDSYEQSTR
RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL TMIVGQVGCG KSSLLLAILG
EMQTLEGKVH WSNVNESEPS FEATRSRNRY SVAYAAQKPW LLNATVEENI TFGSPFNKQR
YKAVTDACSL QPDIDLLPFG DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLDDPFS
ALDIHLSDHL MQEGILKFLQ DDKRTLVLVT HKLQYLTHAD WIIAMKDGSV LREGTLKDIQ
TKDVELYEHW KTLMNRQDQE LEKDMEADQT TLERKTLRRA MYSREAKAQM EDEDEEEEEE
EDEDDNMSTV MRLRTKMPWK TCWRYLTSGG FFLLILMIFS KLLKHSVIVA IDYWLATWTS
EYSINNTGKA DQTYYVAGFS ILCGAGIFLC LVTSLTVEWM GLTAAKNLHH NLLNKIILGP
IRFFDTTPLG LILNRFSADT NIIDQHIPPT LESLTRSTLL CLSAIGMISY ATPVFLVALL
PLGVAFYFIQ KYFRVASKDL QELDDSTQLP LLCHFSETAE GLTTIRAFRH ETRFKQRMLE
LTDTNNIAYL FLSAANRWLE VRTVRSFHDF EMETK*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

421 / 421

Last intron/exon boundary

3986

Theoretical NMD boundary in CDS

3515

Length of CDS

3708

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

34471

Chromosomal position

21908073

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:

12:21908073T>G_2_ENST00000261201

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site changes

Model: without_aae
Tree vote: 171|29 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:21908073T>G (GRCh38)

Gene symbol

ABCC9

Gene constraints

LOEUF: 0.57, LOF (oe): 0.47, misssense (oe): 0.56, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000261201.10

Genbank transcript ID

NM_005691 (by similarity)

UniProt / AlphaMissense peptide

ABCC9_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1455+4A>C
g.34471A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs376587222
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	52	52

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.932	1
	3.999	1
(flanking)	1.244	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	34467	wt: 8.00 / mu: 5.14	-	wt: AAGTACACTT\|gtaagtaaca mu: AAGTACACTT\|gtacgtaaca

Distance from splice site

4

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

CTCAGAAAAGTACACTTGTAAGTAACATCTTTTGGAAACTT

Altered gDNA sequence snippet

CTCAGAAAAGTACACTTGTACGTAACATCTTTTGGAAACTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG SQSSKVQIHH
NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR HLHLFMPAVM GFVATTTSIV
YYHNIETSNF PKLLLALFLY WVMAFITKTI KLVKYCQSGL DISNLRFCIT GMMVILNGLL
MAVEINVIRV RRYVFFMNPQ KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK
KPIDLKAIGK LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS
STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN AYVLAVLLFL
ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST SNLSMGEMTL GQINNLVAIE
TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN LLGSSALVGA AVIVLLAPIQ YFIATKLAEA
QKSTLDYSTE RLKKTNEILK GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI
FMNAAIPIAA VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII
SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY HLDSYEQSTR
RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL TMIVGQVGCG KSSLLLAILG
EMQTLEGKVH WSNVNESEPS FEATRSRNRY SVAYAAQKPW LLNATVEENI TFGSPFNKQR
YKAVTDACSL QPDIDLLPFG DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLDDPFS
ALDIHLSDHL MQEGILKFLQ DDKRTLVLVT HKLQYLTHAD WIIAMKDGSV LREGTLKDIQ
TKDVELYEHW KTLMNRQDQE LEKDMEADQT TLERKTLRRA MYSREAKAQM EDEDEEEEEE
EDEDDNMSTV MRLRTKMPWK TCWRYLTSGG FFLLILMIFS KLLKHSVIVA IDYWLATWTS
EYSINNTGKA DQTYYVAGFS ILCGAGIFLC LVTSLTVEWM GLTAAKNLHH NLLNKIILGP
IRFFDTTPLG LILNRFSADT NIIDQHIPPT LESLTRSTLL CLSAIGMISY ATPVFLVALL
PLGVAFYFIQ KYFRVASKDL QELDDSTQLP LLCHFSETAE GLTTIRAFRH ETRFKQRMLE
LTDTNNIAYL FLSAANRWLE VRTDYLGACI VLTASIASIS GSSNSGLVGL GLLYALTITN
YLNWVVRNLA DLEVQMGAVK KVNSFLTMES ENYEGTMDPS QVPEHWPQEG EIKIHDLCVR
YENNLKPVLK HVKAYIKPGQ KVGICGRTGS GKSSLSLAFF RMVDIFDGKI VIDGIDISKL
PLHTLRSRLS IILQDPILFS GSIRFNLDPE CKCTDDRLWE ALEIAQLKNM VKSLPGGLDA
VVTEGGENFS VGQRQLFCLA RAFVRKSSIL IMDEATASID MATENILQKV VMTAFADRTV
VTIAHRVSSI MDAGLVLVFS EGILVECDTV PNLLAHKNGL FSTLVMTNK*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

364 / 364

Last intron/exon boundary

5051

Theoretical NMD boundary in CDS

4637

Length of CDS

4650

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

34471

Chromosomal position

21908073

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:

12:21908073T>G_4_ENST00000684084

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site changes

Model: without_aae
Tree vote: 171|29 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:21908073T>G (GRCh38)

Gene symbol

ABCC9

Gene constraints

LOEUF: 0.54, LOF (oe): 0.44, misssense (oe): 0.55, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000684084.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1455+4A>C
g.34471A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs376587222
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	52	52

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.932	1
	3.999	1
(flanking)	1.244	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	34467	wt: 8.00 / mu: 5.14	-	wt: AAGTACACTT\|gtaagtaaca mu: AAGTACACTT\|gtacgtaaca

Distance from splice site

4

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

CTCAGAAAAGTACACTTGTAAGTAACATCTTTTGGAAACTT

Altered gDNA sequence snippet

CTCAGAAAAGTACACTTGTACGTAACATCTTTTGGAAACTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG SQSSKVQIHH
NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR HLHLFMPAVM GFVATTTSIV
YYHNIETSNF PKLLLALFLY WVMAFITKTI KLVKYCQSGL DISNLRFCIT GMMVILNGLL
MAVEINVIRV RRYVFFMNPQ KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK
KPIDLKAIGK LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS
STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN AYVLAVLLFL
ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST SNLSMGEMTL GQINNLVAIE
TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN LLGSSALVGA AVIVLLAPIQ YFIATKLAEA
QKSTLDYSTE RLKKTNEILK GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI
FMNAAIPIAA VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII
SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY HLDSYEQSTR
RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL TMIVGQVGCG KSSLLLAILG
EMQTLEGKVH WSNVNESEPS FEATRSRNRY SVAYAAQKPW LLNATVEENI TFGSPFNKQR
YKAVTDACSL QPDIDLLPFG DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLEGILK
FLQDDKRTLV LVTHKLQYLT HADWIIAMKD GSVLREGTLK DIQTKDVELY EHWKTLMNRQ
DQELEKDMEA DQTTLERKTL RRAMYSREAK AQMEDEDEEE EEEEDEDDNM STVMRLRTKM
PWKTCWRYLT SGGFFLLILM IFSKLLKHSV IVAIDYWLAT WTSEYSINNT GKADQTYYVA
GFSILCGAGI FLCLVTSLTV EWMGLTAAKN LHHNLLNKII LGPIRFFDTT PLGLILNRFS
ADTNIIDQHI PPTLESLTRS TLLCLSAIGM ISYATPVFLV ALLPLGVAFY FIQKYFRVAS
KDLQELDDST QLPLLCHFSE TAEGLTTIRA FRHETRFKQR MLELTDTNNI AYLFLSAANR
WLEVRTDYLG ACIVLTASIA SISGSSNSGL VGLGLLYALT ITNYLNWVVR NLADLEVQMG
AVKKVNSFLT MESENYEGTM DPSQVPEHWP QEGEIKIHDL CVRYENNLKP VLKHVKAYIK
PGQKVGICGR TGSGKSSLSL AFFRMVDIFD GKIVIDGIDI SKLPLHTLRS RLSIILQDPI
LFSGSIRFNL DPECKCTDDR LWEALEIAQL KNMVKSLPGG LDAVVTEGGE NFSVGQRQLF
CLARAFVRKS SILIMDEATA SIDMATENIL QKVVMTAFAD RTVVTIAHRV HTILTADLVI
VMKRGNILEY DTPESLLAQE NGVFASFVRA DM*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

252 / 252

Last intron/exon boundary

4712

Theoretical NMD boundary in CDS

4410

Length of CDS

4599

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

34471

Chromosomal position

21908073

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:

12:21908073T>G_1_ENST00000261200

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Splice site changes

Model: without_aae
Tree vote: 174|26 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr12:21908073T>G (GRCh38)

Gene symbol

ABCC9

Gene constraints

LOEUF: 0.56, LOF (oe): 0.46, misssense (oe): 0.55, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000261200.9

Genbank transcript ID

NM_020297 (exact from MANE), NM_001377273 (by similarity)

UniProt / AlphaMissense peptide

ABCC9_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1455+4A>C
g.34471A>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs376587222
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	52	52

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.932	1
	3.999	1
(flanking)	1.244	1

?

Splice sites

MaxEntScan:

effect	gDNA position	score	sequence	exon-intron border
Donor weakened	34467	wt: 8.00 / mu: 5.14	-	wt: AAGTACACTT\|gtaagtaaca mu: AAGTACACTT\|gtacgtaaca

Distance from splice site

4

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

12

Strand

-1

Original gDNA sequence snippet

CTCAGAAAAGTACACTTGTAAGTAACATCTTTTGGAAACTT

Altered gDNA sequence snippet

CTCAGAAAAGTACACTTGTACGTAACATCTTTTGGAAACTT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSLSFCGNNI SSYNINDGVL QNSCFVDALN LVPHVFLLFI TFPILFIGWG SQSSKVQIHH
NTWLHFPGHN LRWILTFALL FVHVCEIAEG IVSDSRRESR HLHLFMPAVM GFVATTTSIV
YYHNIETSNF PKLLLALFLY WVMAFITKTI KLVKYCQSGL DISNLRFCIT GMMVILNGLL
MAVEINVIRV RRYVFFMNPQ KVKPPEDLQD LGVRFLQPFV NLLSKATYWW MNTLIISAHK
KPIDLKAIGK LPIAMRAVTN YVCLKDAYEE QKKKVADHPN RTPSIWLAMY RAFGRPILLS
STFRYLADLL GFAGPLCISG IVQRVNETQN GTNNTTGISE TLSSKEFLEN AYVLAVLLFL
ALILQRTFLQ ASYYVTIETG INLRGALLAM IYNKILRLST SNLSMGEMTL GQINNLVAIE
TNQLMWFLFL CPNLWAMPVQ IIMGVILLYN LLGSSALVGA AVIVLLAPIQ YFIATKLAEA
QKSTLDYSTE RLKKTNEILK GIKLLKLYAW EHIFCKSVEE TRMKELSSLK TFALYTSLSI
FMNAAIPIAA VLATFVTHAY ASGNNLKPAE AFASLSLFHI LVTPLFLLST VVRFAVKAII
SVQKLNEFLL SDEIGDDSWR TGESSLPFES CKKHTGVQPK TINRKQPGRY HLDSYEQSTR
RLRPAETEDI AIKVTNGYFS WGSGLATLSN IDIRIPTGQL TMIVGQVGCG KSSLLLAILG
EMQTLEGKVH WSNVNESEPS FEATRSRNRY SVAYAAQKPW LLNATVEENI TFGSPFNKQR
YKAVTDACSL QPDIDLLPFG DQTEIGERGI NLSGGQRQRI CVARALYQNT NIVFLDDPFS
ALDIHLSDHL MQEGILKFLQ DDKRTLVLVT HKLQYLTHAD WIIAMKDGSV LREGTLKDIQ
TKDVELYEHW KTLMNRQDQE LEKDMEADQT TLERKTLRRA MYSREAKAQM EDEDEEEEEE
EDEDDNMSTV MRLRTKMPWK TCWRYLTSGG FFLLILMIFS KLLKHSVIVA IDYWLATWTS
EYSINNTGKA DQTYYVAGFS ILCGAGIFLC LVTSLTVEWM GLTAAKNLHH NLLNKIILGP
IRFFDTTPLG LILNRFSADT NIIDQHIPPT LESLTRSTLL CLSAIGMISY ATPVFLVALL
PLGVAFYFIQ KYFRVASKDL QELDDSTQLP LLCHFSETAE GLTTIRAFRH ETRFKQRMLE
LTDTNNIAYL FLSAANRWLE VRTDYLGACI VLTASIASIS GSSNSGLVGL GLLYALTITN
YLNWVVRNLA DLEVQMGAVK KVNSFLTMES ENYEGTMDPS QVPEHWPQEG EIKIHDLCVR
YENNLKPVLK HVKAYIKPGQ KVGICGRTGS GKSSLSLAFF RMVDIFDGKI VIDGIDISKL
PLHTLRSRLS IILQDPILFS GSIRFNLDPE CKCTDDRLWE ALEIAQLKNM VKSLPGGLDA
VVTEGGENFS VGQRQLFCLA RAFVRKSSIL IMDEATASID MATENILQKV VMTAFADRTV
VTIAHRVHTI LTADLVIVMK RGNILEYDTP ESLLAQENGV FASFVRADM*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

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

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

364 / 364

Last intron/exon boundary

4875

Theoretical NMD boundary in CDS

4461

Length of CDS

4650

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

34471

Chromosomal position

21908073

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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