MutationT@ster 2025

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Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000506757
Querying Taster for transcript #2: ENST00000506545
Querying Taster for transcript #3: ENST00000432095
Querying Taster for transcript #4: ENST00000507527
MT speed 0.24 s - this script 2.683529 s

Transcript summary:

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Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000506757(MANE Select)	SLC4A9	Deleterious	87\|13	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000432095	SLC4A9	Deleterious	88\|12	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000506545	SLC4A9	Deleterious	89\|11	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000507527	SLC4A9	Deleterious	89\|11	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected

MutationT@ster 2025

Variant:

5:140366235C>G_1_ENST00000506757

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 87|13 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:140366235C>G (GRCh38)

Gene symbol

SLC4A9

Gene constraints

LOEUF: 1.20, LOF (oe): 1.01, misssense (oe): 0.93, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000506757.7

Genbank transcript ID

NM_031467 (exact from MANE)

UniProt / AlphaMissense peptide

B3A4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1984C>G
g.6042C>G

AA changes

AAE:	P662A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		662	C	G	L	D	A	F	L	G	L	A	T	P	K	L	M	V	P	R	E	F	K	P	T	L
mutated	not conserved	662											T	A	K	L	M	V	P	R	E	F	K	P	T
Ptroglodytes	all identical	662											T	P	K	L	M	V	P	R	E	F	K	P	T
Mmulatta	all identical	688	C	G	L	D	A	F	L	G	L	A	T	P	K	L	M	V	P	R	E	F	K	P	T
Fcatus	all identical	660												P	K	L	M	V	P	S	E	F	K	P	T
Mmusculus	all identical	655											T	P	K	L	L	V	P	T	E	F	K	P	T
Ggallus	all identical	685	C	A	I	D	A	A	L	G	L	E	T	P	K	L	L	V	P	S	E	L	K	P	T
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	703	C	A	I	D	A	S	F	G	L	E	T	P	K	L	I	V	P	T	E	F	K	P	T

Protein features

Start (aa)	End (aa)	Feature	Details
1	983	CHAIN		lost
415	983	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.9	0
	6.101	1
(flanking)	4.003	0.998

?

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

Yes

Chromosome

5

Strand

1

Original gDNA sequence snippet

CTTTCCTGGGCCTAGCCACACCAAAGCTCATGGTACCCAGA

Altered gDNA sequence snippet

CTTTCCTGGGCCTAGCCACAGCAAAGCTCATGGTACCCAGA

Original cDNA sequence snippet

CTTTCCTGGGCCTAGCCACACCAAAGCTCATGGTACCCAGA

Altered cDNA sequence snippet

CTTTCCTGGGCCTAGCCACAGCAAAGCTCATGGTACCCAGA

Wildtype AA sequence

MEMKLPGQEG FEASSAPRNI PSGELDSNPD PGTGPSPDGP SDTESKELGV PKDPLLFIQL
NELLGWPQAL EWRETGRWVL FEEKLEVAAG RWSAPHVPTL ALPSLQKLRS LLAEGLVLLD
CPAQSLLELV EQVTRVESLS PELRGQLQAL LLQRPQHYNQ TTGTRPCWGS THPRKASDNE
EAPLREQCQN PLRQKLPPGA EAGTVLAGEL GFLAQPLGAF VRLRNPVVLG SLTEVSLPSR
FFCLLLGPCM LGKGYHEMGR AAAVLLSDPQ FQWSVRRASN LHDLLAALDA FLEEVTVLPP
GRWDPTARIP PPKCLPSQHK RLPSQQREIR GPAVPRLTSA EDRHRHGPHA HSPELQRTGR
LFGGLIQDVR RKVPWYPSDF LDALHLQCFS AVLYIYLATV TNAITFGGLL GDATDGAQGV
LESFLGTAVA GAAFCLMAGQ PLTILSSTGP VLVFERLLFS FSRDYSLDYL PFRLWVGIWV
ATFCLVLVAT EASVLVRYFT RFTEEGFCAL ISLIFIYDAV GKMLNLTHTY PIQKPGSSAY
GCLCQYPGPG GNESQWIRTR PKDRDDIVSM DLGLINASLL PPPECTRQGG HPRGPGCHTV
PDIAFFSLLL FLTSFFFAMA LKCVKTSRFF PSVVRKGLSD FSSVLAILLG CGLDAFLGLA
TPKLMVPREF KPTLPGRGWL VSPFGANPWW WSVAAALPAL LLSILIFMDQ QITAVILNRM
EYRLQKGAGF HLDLFCVAVL MLLTSALGLP WYVSATVISL AHMDSLRRES RACAPGERPN
FLGIREQRLT GLVVFILTGA SIFLAPVLKF IPMPVLYGIF LYMGVAALSS IQFTNRVKLL
LMPAKHQPDL LLLRHVPLTR VHLFTAIQLA CLGLLWIIKS TPAAIIFPLM LLGLVGVRKA
LERVFSPQEL LWLDELMPEE ERSIPEKGLE PEHSFSGSDS EDSELMYQPK APEINISVN*

Mutated AA sequence

MEMKLPGQEG FEASSAPRNI PSGELDSNPD PGTGPSPDGP SDTESKELGV PKDPLLFIQL
NELLGWPQAL EWRETGRWVL FEEKLEVAAG RWSAPHVPTL ALPSLQKLRS LLAEGLVLLD
CPAQSLLELV EQVTRVESLS PELRGQLQAL LLQRPQHYNQ TTGTRPCWGS THPRKASDNE
EAPLREQCQN PLRQKLPPGA EAGTVLAGEL GFLAQPLGAF VRLRNPVVLG SLTEVSLPSR
FFCLLLGPCM LGKGYHEMGR AAAVLLSDPQ FQWSVRRASN LHDLLAALDA FLEEVTVLPP
GRWDPTARIP PPKCLPSQHK RLPSQQREIR GPAVPRLTSA EDRHRHGPHA HSPELQRTGR
LFGGLIQDVR RKVPWYPSDF LDALHLQCFS AVLYIYLATV TNAITFGGLL GDATDGAQGV
LESFLGTAVA GAAFCLMAGQ PLTILSSTGP VLVFERLLFS FSRDYSLDYL PFRLWVGIWV
ATFCLVLVAT EASVLVRYFT RFTEEGFCAL ISLIFIYDAV GKMLNLTHTY PIQKPGSSAY
GCLCQYPGPG GNESQWIRTR PKDRDDIVSM DLGLINASLL PPPECTRQGG HPRGPGCHTV
PDIAFFSLLL FLTSFFFAMA LKCVKTSRFF PSVVRKGLSD FSSVLAILLG CGLDAFLGLA
TAKLMVPREF KPTLPGRGWL VSPFGANPWW WSVAAALPAL LLSILIFMDQ QITAVILNRM
EYRLQKGAGF HLDLFCVAVL MLLTSALGLP WYVSATVISL AHMDSLRRES RACAPGERPN
FLGIREQRLT GLVVFILTGA SIFLAPVLKF IPMPVLYGIF LYMGVAALSS IQFTNRVKLL
LMPAKHQPDL LLLRHVPLTR VHLFTAIQLA CLGLLWIIKS TPAAIIFPLM LLGLVGVRKA
LERVFSPQEL LWLDELMPEE ERSIPEKGLE PEHSFSGSDS EDSELMYQPK APEINISVN*

Position of stopcodon in wt / mu CDS

2880 / 2880

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

960 / 960

Position of stopcodon in wt / mu cDNA

2923 / 2923

Position of start ATG in wt / mu cDNA

44 / 44

Last intron/exon boundary

2968

Theoretical NMD boundary in CDS

2874

Length of CDS

2880

Coding sequence (CDS) position

1984

cDNA position

2027

gDNA position

6042

Chromosomal position

140366235

Speed

0.08 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:

5:140366235C>G_3_ENST00000432095

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 88|12 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:140366235C>G (GRCh38)

Gene symbol

SLC4A9

Gene constraints

LOEUF: 1.21, LOF (oe): 1.02, misssense (oe): 0.94, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000432095.6

Genbank transcript ID

NM_001258426 (by similarity)

UniProt / AlphaMissense peptide

B3A4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1942C>G
g.6042C>G

AA changes

AAE:	P648A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		648	C	G	L	D	A	F	L	G	L	A	T	P	K	L	M	V	P	R	E	F	K	P	T	L
mutated	not conserved	648	C	G	L	D	A	F	L	G	L	A	T	A	K	L	M	V	P	R	E	F	K	P	T
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	983	CHAIN		lost
415	983	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.9	0
	6.101	1
(flanking)	4.003	0.998

?

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

Yes

Chromosome

5

Strand

1

Original gDNA sequence snippet

CTTTCCTGGGCCTAGCCACACCAAAGCTCATGGTACCCAGA

Altered gDNA sequence snippet

CTTTCCTGGGCCTAGCCACAGCAAAGCTCATGGTACCCAGA

Original cDNA sequence snippet

CTTTCCTGGGCCTAGCCACACCAAAGCTCATGGTACCCAGA

Altered cDNA sequence snippet

CTTTCCTGGGCCTAGCCACAGCAAAGCTCATGGTACCCAGA

Wildtype AA sequence

MEMKLPGQEG FEASSAPRNI PSGELDSNPD PGTGPSPDGP SDTESKELGV PKDPLLFIQL
NELLGWPQAL EWRETGRWVL FEEKLEVAAG RWSAPHVPTL ALPSLQKLRS LLAEGLVLLD
CPAQSLLELV EQVTRVESLS PELRGQLQAL LLQRPQHYNQ TTGTRPCWGS THPRKASDNE
EAPLREQCQN PLRQKLPPGA EAGTVLAGEL GFLAQPLGAF VRLRNPVVLG SLTEVSLPSR
FFCLLLGPCM LGKGYHEMGR AAAVLLSDPQ FQWSVRRASN LHDLLAALDA FLEEVTVLPP
GRWDPTARIP PPKCLPSQHK RLPSQQREIR GPAVPRLTSA EDRHRHGPHA HSPELQRTGR
KVPWYPSDFL DALHLQCFSA VLYIYLATVT NAITFGGLLG DATDGAQGVL ESFLGTAVAG
AAFCLMAGQP LTILSSTGPV LVFERLLFSF SRDYSLDYLP FRLWVGIWVA TFCLVLVATE
ASVLVRYFTR FTEEGFCALI SLIFIYDAVG KMLNLTHTYP IQKPGSSAYG CLCQYPGPGG
NESQWIRTRP KDRDDIDLGL INASLLPPPE CTRQGGHPRG PGCHTVPDIA FFSLLLFLTS
FFFAMALKCV KTSRFFPSVV RKGLSDFSSV LAILLGCGLD AFLGLATPKL MVPREFKPTL
PGRGWLVSPF GANPWWWSVA AALPALLLSI LIFMDQQITA VILNRMEYRL QKGAGFHLDL
FCVAVLMLLT SALGLPWYVS ATVISLAHMD SLRRESRACA PGERPNFLGI REQRLTGLVV
FILTGASIFL APVLKFIPMP VLYGIFLYMG VAALSSIQFT NRVKLLLMPA KHQPDLLLLR
HVPLTRVHLF TAIQLACLGL LWIIKSTPAA IIFPLMLLGL VGVRKALERV FSPQELLWLD
ELMPEEERSI PEKGLEPEHS FSGSDSEDSE LMYQPKAPEI NISVN*

Mutated AA sequence

MEMKLPGQEG FEASSAPRNI PSGELDSNPD PGTGPSPDGP SDTESKELGV PKDPLLFIQL
NELLGWPQAL EWRETGRWVL FEEKLEVAAG RWSAPHVPTL ALPSLQKLRS LLAEGLVLLD
CPAQSLLELV EQVTRVESLS PELRGQLQAL LLQRPQHYNQ TTGTRPCWGS THPRKASDNE
EAPLREQCQN PLRQKLPPGA EAGTVLAGEL GFLAQPLGAF VRLRNPVVLG SLTEVSLPSR
FFCLLLGPCM LGKGYHEMGR AAAVLLSDPQ FQWSVRRASN LHDLLAALDA FLEEVTVLPP
GRWDPTARIP PPKCLPSQHK RLPSQQREIR GPAVPRLTSA EDRHRHGPHA HSPELQRTGR
KVPWYPSDFL DALHLQCFSA VLYIYLATVT NAITFGGLLG DATDGAQGVL ESFLGTAVAG
AAFCLMAGQP LTILSSTGPV LVFERLLFSF SRDYSLDYLP FRLWVGIWVA TFCLVLVATE
ASVLVRYFTR FTEEGFCALI SLIFIYDAVG KMLNLTHTYP IQKPGSSAYG CLCQYPGPGG
NESQWIRTRP KDRDDIDLGL INASLLPPPE CTRQGGHPRG PGCHTVPDIA FFSLLLFLTS
FFFAMALKCV KTSRFFPSVV RKGLSDFSSV LAILLGCGLD AFLGLATAKL MVPREFKPTL
PGRGWLVSPF GANPWWWSVA AALPALLLSI LIFMDQQITA VILNRMEYRL QKGAGFHLDL
FCVAVLMLLT SALGLPWYVS ATVISLAHMD SLRRESRACA PGERPNFLGI REQRLTGLVV
FILTGASIFL APVLKFIPMP VLYGIFLYMG VAALSSIQFT NRVKLLLMPA KHQPDLLLLR
HVPLTRVHLF TAIQLACLGL LWIIKSTPAA IIFPLMLLGL VGVRKALERV FSPQELLWLD
ELMPEEERSI PEKGLEPEHS FSGSDSEDSE LMYQPKAPEI NISVN*

Position of stopcodon in wt / mu CDS

2838 / 2838

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

946 / 946

Position of stopcodon in wt / mu cDNA

2865 / 2865

Position of start ATG in wt / mu cDNA

28 / 28

Last intron/exon boundary

2910

Theoretical NMD boundary in CDS

2832

Length of CDS

2838

Coding sequence (CDS) position

1942

cDNA position

1969

gDNA position

6042

Chromosomal position

140366235

Speed

0.05 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:

5:140366235C>G_2_ENST00000506545

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 89|11 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:140366235C>G (GRCh38)

Gene symbol

SLC4A9

Gene constraints

LOEUF: 1.19, LOF (oe): 1.00, misssense (oe): 0.93, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000506545.5

Genbank transcript ID

NM_001258427 (by similarity)

UniProt / AlphaMissense peptide

B3A4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1795C>G
g.6042C>G

AA changes

AAE:	P599A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		599	C	G	L	D	A	F	L	G	L	A	T	P	K	L	M	V	P	R	E	F	K	P	T	L
mutated	not conserved	599	C	G	L	D	A	F	L	G	L	A	T	A	K	L	M	V	P	R	E	F	K	P	T
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	983	CHAIN		lost
415	983	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.9	0
	6.101	1
(flanking)	4.003	0.998

?

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

Yes

Chromosome

5

Strand

1

Original gDNA sequence snippet

CTTTCCTGGGCCTAGCCACACCAAAGCTCATGGTACCCAGA

Altered gDNA sequence snippet

CTTTCCTGGGCCTAGCCACAGCAAAGCTCATGGTACCCAGA

Original cDNA sequence snippet

CTTTCCTGGGCCTAGCCACACCAAAGCTCATGGTACCCAGA

Altered cDNA sequence snippet

CTTTCCTGGGCCTAGCCACAGCAAAGCTCATGGTACCCAGA

Wildtype AA sequence

MEMKLPGQEG FEASSAPRNI PSGELDSNPD PGTGPSPDGP SDTESKELGV PKDPLLFIQL
NELLGWPQAL EWRETGRWVL FEEKLEVAAG RWSAPHVPTL ALPSLQKLRS LLAEGLVLLD
CPAQSLLELV EQVTRVESLS PELRGQLQAL LLQRPQHYNQ TTGTRPCWGS THPRKASDNE
EAPLREQCQN PLRQKLPPGA EAGTVLAGEL GFLAQPLGAF VRLRNPVVLG SLTEVSLPSR
FFCLLLGPCM LGKGYHEMGR AAAVLLSDPQ FQWSVRRASN LHDLLAALDA FLEEVTVLPP
GRWDPTARIP PPKCLPSQHK RLPSQQREIR GPAVPRLTSA EDRHRHGPHA HSPELQRTGR
LFGGLIQDVR RKVPWYPSDF LDALHLQCFS AVLYIYLATV TNAITFGGLL GDATDGAQGV
LESFLGTAVA GAAFCLMAGQ PLTILSSTGP VLVFERLLFS FSRDYSLDYL PFRLWVGIWV
ATFCLVLVAT EASVLVRYFT RFTEEGFCAL ISLIFIYDAV GKMLNLTHTY PIQKPGSSAY
GCLCQYPGPG GNESQWIRTR PKDRDDIVSM VRKGLSDFSS VLAILLGCGL DAFLGLATPK
LMVPREFKPT LPGRGWLVSP FGANPWWWSV AAALPALLLS ILIFMDQQIT AVILNRMEYR
LQKGAGFHLD LFCVAVLMLL TSALGLPWYV SATVISLAHM DSLRRESRAC APGERPNFLG
IREQRLTGLV VFILTGASIF LAPVLKFIPM PVLYGIFLYM GVAALSSIQF TNRVKLLLMP
AKHQPDLLLL RHVPLTRVHL FTAIQLACLG LLWIIKSTPA AIIFPLMLLG LVGVRKALER
VFSPQELLWL DELMPEEERS IPEKGLEPEH SFSGSDSEDS ELMYQPKAPE INISVN*

Mutated AA sequence

MEMKLPGQEG FEASSAPRNI PSGELDSNPD PGTGPSPDGP SDTESKELGV PKDPLLFIQL
NELLGWPQAL EWRETGRWVL FEEKLEVAAG RWSAPHVPTL ALPSLQKLRS LLAEGLVLLD
CPAQSLLELV EQVTRVESLS PELRGQLQAL LLQRPQHYNQ TTGTRPCWGS THPRKASDNE
EAPLREQCQN PLRQKLPPGA EAGTVLAGEL GFLAQPLGAF VRLRNPVVLG SLTEVSLPSR
FFCLLLGPCM LGKGYHEMGR AAAVLLSDPQ FQWSVRRASN LHDLLAALDA FLEEVTVLPP
GRWDPTARIP PPKCLPSQHK RLPSQQREIR GPAVPRLTSA EDRHRHGPHA HSPELQRTGR
LFGGLIQDVR RKVPWYPSDF LDALHLQCFS AVLYIYLATV TNAITFGGLL GDATDGAQGV
LESFLGTAVA GAAFCLMAGQ PLTILSSTGP VLVFERLLFS FSRDYSLDYL PFRLWVGIWV
ATFCLVLVAT EASVLVRYFT RFTEEGFCAL ISLIFIYDAV GKMLNLTHTY PIQKPGSSAY
GCLCQYPGPG GNESQWIRTR PKDRDDIVSM VRKGLSDFSS VLAILLGCGL DAFLGLATAK
LMVPREFKPT LPGRGWLVSP FGANPWWWSV AAALPALLLS ILIFMDQQIT AVILNRMEYR
LQKGAGFHLD LFCVAVLMLL TSALGLPWYV SATVISLAHM DSLRRESRAC APGERPNFLG
IREQRLTGLV VFILTGASIF LAPVLKFIPM PVLYGIFLYM GVAALSSIQF TNRVKLLLMP
AKHQPDLLLL RHVPLTRVHL FTAIQLACLG LLWIIKSTPA AIIFPLMLLG LVGVRKALER
VFSPQELLWL DELMPEEERS IPEKGLEPEH SFSGSDSEDS ELMYQPKAPE INISVN*

Position of stopcodon in wt / mu CDS

2691 / 2691

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

897 / 897

Position of stopcodon in wt / mu cDNA

2718 / 2718

Position of start ATG in wt / mu cDNA

28 / 28

Last intron/exon boundary

2763

Theoretical NMD boundary in CDS

2685

Length of CDS

2691

Coding sequence (CDS) position

1795

cDNA position

1822

gDNA position

6042

Chromosomal position

140366235

Speed

0.07 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:

5:140366235C>G_4_ENST00000507527

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 89|11 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr5:140366235C>G (GRCh38)

Gene symbol

SLC4A9

Gene constraints

LOEUF: 1.20, LOF (oe): 1.01, misssense (oe): 0.93, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000507527.1

Genbank transcript ID

NM_001258428 (by similarity)

UniProt / AlphaMissense peptide

B3A4_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.2056C>G
g.6042C>G

AA changes

AAE:	P686A	?
Score:	27

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

	Not in dbSNP
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	0	1	1

Protein conservation

Species	Match	AA	Alignment
Human		686	C	G	L	D	A	F	L	G	L	A	T	P	K	L	M	V	P	R	E	F	K	P	T	L
mutated	not conserved	686	C	G	L	D	A	F	L	G	L	A	T	A	K	L	M	V	P	R	E	F	K	P	T
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	983	CHAIN		lost
415	983	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-2.9	0
	6.101	1
(flanking)	4.003	0.998

?

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

Yes

Chromosome

5

Strand

1

Original gDNA sequence snippet

CTTTCCTGGGCCTAGCCACACCAAAGCTCATGGTACCCAGA

Altered gDNA sequence snippet

CTTTCCTGGGCCTAGCCACAGCAAAGCTCATGGTACCCAGA

Original cDNA sequence snippet

CTTTCCTGGGCCTAGCCACACCAAAGCTCATGGTACCCAGA

Altered cDNA sequence snippet

CTTTCCTGGGCCTAGCCACAGCAAAGCTCATGGTACCCAGA

Wildtype AA sequence

MEMKLPGQEG FEASSAPRNI PSGELDSNPD PGTGPSPDGP SDTESKELGV PKDPLLFIQL
NELLGWPQAL EWRETGSSSA SLLLDMGEMP SITLSTHLHH RWVLFEEKLE VAAGRWSAPH
VPTLALPSLQ KLRSLLAEGL VLLDCPAQSL LELVEQVTRV ESLSPELRGQ LQALLLQRPQ
HYNQTTGTRP CWGSTHPRKA SDNEEAPLRE QCQNPLRQKL PPGAEAGTVL AGELGFLAQP
LGAFVRLRNP VVLGSLTEVS LPSRFFCLLL GPCMLGKGYH EMGRAAAVLL SDPQFQWSVR
RASNLHDLLA ALDAFLEEVT VLPPGRWDPT ARIPPPKCLP SQHKRLPSQQ REIRGPAVPR
LTSAEDRHRH GPHAHSPELQ RTGRLFGGLI QDVRRKVPWY PSDFLDALHL QCFSAVLYIY
LATVTNAITF GGLLGDATDG AQGVLESFLG TAVAGAAFCL MAGQPLTILS STGPVLVFER
LLFSFSRDYS LDYLPFRLWV GIWVATFCLV LVATEASVLV RYFTRFTEEG FCALISLIFI
YDAVGKMLNL THTYPIQKPG SSAYGCLCQY PGPGGNESQW IRTRPKDRDD IVSMDLGLIN
ASLLPPPECT RQGGHPRGPG CHTVPDIAFF SLLLFLTSFF FAMALKCVKT SRFFPSVVRK
GLSDFSSVLA ILLGCGLDAF LGLATPKLMV PREFKPTLPG RGWLVSPFGA NPWWWSVAAA
LPALLLSILI FMDQQITAVI LNRMEYRLQK GAGFHLDLFC VAVLMLLTSA LGLPWYVSAT
VISLAHMDSL RRESRACAPG ERPNFLGIRE QRLTGLVVFI LTGASIFLAP VLKFIPMPVL
YGIFLYMGVA ALSSIQFTNR VKLLLMPAKH QPDLLLLRHV PLTRVHLFTA IQLACLGLLW
IIKSTPAAII FPLMLLGLVG VRKALERVFS PQELLWLDEL MPEEERSIPE KGLEPEHSFS
GSDSEDSELM YQPKAPEINI SVN*

Mutated AA sequence

MEMKLPGQEG FEASSAPRNI PSGELDSNPD PGTGPSPDGP SDTESKELGV PKDPLLFIQL
NELLGWPQAL EWRETGSSSA SLLLDMGEMP SITLSTHLHH RWVLFEEKLE VAAGRWSAPH
VPTLALPSLQ KLRSLLAEGL VLLDCPAQSL LELVEQVTRV ESLSPELRGQ LQALLLQRPQ
HYNQTTGTRP CWGSTHPRKA SDNEEAPLRE QCQNPLRQKL PPGAEAGTVL AGELGFLAQP
LGAFVRLRNP VVLGSLTEVS LPSRFFCLLL GPCMLGKGYH EMGRAAAVLL SDPQFQWSVR
RASNLHDLLA ALDAFLEEVT VLPPGRWDPT ARIPPPKCLP SQHKRLPSQQ REIRGPAVPR
LTSAEDRHRH GPHAHSPELQ RTGRLFGGLI QDVRRKVPWY PSDFLDALHL QCFSAVLYIY
LATVTNAITF GGLLGDATDG AQGVLESFLG TAVAGAAFCL MAGQPLTILS STGPVLVFER
LLFSFSRDYS LDYLPFRLWV GIWVATFCLV LVATEASVLV RYFTRFTEEG FCALISLIFI
YDAVGKMLNL THTYPIQKPG SSAYGCLCQY PGPGGNESQW IRTRPKDRDD IVSMDLGLIN
ASLLPPPECT RQGGHPRGPG CHTVPDIAFF SLLLFLTSFF FAMALKCVKT SRFFPSVVRK
GLSDFSSVLA ILLGCGLDAF LGLATAKLMV PREFKPTLPG RGWLVSPFGA NPWWWSVAAA
LPALLLSILI FMDQQITAVI LNRMEYRLQK GAGFHLDLFC VAVLMLLTSA LGLPWYVSAT
VISLAHMDSL RRESRACAPG ERPNFLGIRE QRLTGLVVFI LTGASIFLAP VLKFIPMPVL
YGIFLYMGVA ALSSIQFTNR VKLLLMPAKH QPDLLLLRHV PLTRVHLFTA IQLACLGLLW
IIKSTPAAII FPLMLLGLVG VRKALERVFS PQELLWLDEL MPEEERSIPE KGLEPEHSFS
GSDSEDSELM YQPKAPEINI SVN*

Position of stopcodon in wt / mu CDS

2952 / 2952

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

984 / 984

Position of stopcodon in wt / mu cDNA

2974 / 2974

Position of start ATG in wt / mu cDNA

23 / 23

Last intron/exon boundary

3019

Theoretical NMD boundary in CDS

2946

Length of CDS

2952

Coding sequence (CDS) position

2056

cDNA position

2078

gDNA position

6042

Chromosomal position

140366235

Speed

0.04 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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