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: ENST00000399246
Querying Taster for transcript #2: ENST00000262418
MT speed 0.4 s - this script 2.842312 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Prediction problem	Splice site change	Known ClinVar disease mutation	Potential ClinVar disease mutation	Amino acid changes	Variant type	dbSNP ID	Protein length	Features at a glance
ENST00000262418(MANE Select)	SLC4A1	Deleterious	58\|42	simple_aae		No	Yes			Single base exchange		Normal	Amino acid sequence changed Known disease mutation: ClinVar ID 17773 (pathogenic) Protein features (might be) affected
ENST00000399246	SLC4A1	Deleterious	134\|66	without_aae		No	Yes			Single base exchange		N/A	Known disease mutation: ClinVar ID 17773 (pathogenic)

MutationT@ster 2025

Variant:

17:44257514C>T_2_ENST00000262418

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 17773 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 58|42 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:44257514C>T (GRCh38)

Gene symbol

SLC4A1

Gene constraints

LOEUF: 0.41, LOF (oe): 0.30, misssense (oe): 0.78, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000262418.12

Genbank transcript ID

NM_000342 (exact from MANE)

UniProt / AlphaMissense peptide

B3AT_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1462G>A
g.10628G>A

AA changes

AAE:	V488M	?
Score:	21

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

BLOOD GROUP--SWANN SYSTEM
BLOOD GROUP--WALDNER TYPE
Southeast Asian ovalocytosis
BLOOD GROUP--FROESE
BLOOD GROUP--WRIGHT ANTIGEN
Malaria, susceptibility to
Hereditary spherocytosis type 4
Cryohydrocytosis
Autosomal dominant distal renal tubular acidosis
Renal tubular acidosis, distal, 4, with hemolytic anemia
BLOOD GROUP--DIEGO SYSTEM

pathogenic

ClinVar OMIM

Variant DBs

dbSNP ID	rs28931584
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

Species	Match	AA	Alignment
Human		488	S	F	C	E	T	N	G	L	E	Y	I	V	G	R	V	W	I	G	F	W	L	I	L	L
mutated	all conserved	488					T	N	G	L	E	Y	I	M	G	R	V	W	I	G	F	W	L	I	L
Ptroglodytes	all identical	498	S	F	C	E	S	N	G	L	E	Y	I	V	G	R	V	W	I	G	F	W	L	I	L
Mmulatta	all identical	491	S	F	C	E	S	N	G	L	E	Y	I	V	G	R	V	W	I	G	F	W	L	I	L
Fcatus	all identical	500	S	F	C	S	S	N	N	L	E	Y	I	V	G	R	V	W	I	G	F	W	L	V	L
Mmusculus	all identical	507	S	F	C	E	S	N	N	L	E	Y	I	V	G	R	A	W	I	G	F	W	L	I	L
Ggallus	all identical	553	R	F	C	E	D	H	G	L	E	Y	I	V	G	R	V	W	I	G	F	W
Trubripes	all identical	1847	A	F	C	K	S	Q	G	I	E	Y	I	V	G	R	V	W	V	G	V	W	L	V	I
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	525					S	Q	G	I	E	Y	I	V	G	R	V	W	I	G	F	W	L	I	L

Protein features

Start (aa)	End (aa)	Feature	Details
1	911	CHAIN		lost
486	506	TRANSMEM	Helical	lost
486	506	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.189	0.997
	2.227	0.958
(flanking)	-0.472	0.099

?

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

17

Strand

-1

Original gDNA sequence snippet

CCAACGGTCTAGAGTACATCGTGGGCCGCGTGTGGATCGGC

Altered gDNA sequence snippet

CCAACGGTCTAGAGTACATCATGGGCCGCGTGTGGATCGGC

Original cDNA sequence snippet

CCAACGGTCTAGAGTACATCGTGGGCCGCGTGTGGATCGGC

Altered cDNA sequence snippet

CCAACGGTCTAGAGTACATCATGGGCCGCGTGTGGATCGGC

Wildtype AA sequence

MEELQDDYED MMEENLEQEE YEDPDIPESQ MEEPAAHDTE ATATDYHTTS HPGTHKVYVE
LQELVMDEKN QELRWMEAAR WVQLEENLGE NGAWGRPHLS HLTFWSLLEL RRVFTKGTVL
LDLQETSLAG VANQLLDRFI FEDQIRPQDR EELLRALLLK HSHAGELEAL GGVKPAVLTR
SGDPSQPLLP QHSSLETQLF CEQGDGGTEG HSPSGILEKI PPDSEATLVL VGRADFLEQP
VLGFVRLQEA AELEAVELPV PIRFLFVLLG PEAPHIDYTQ LGRAAATLMS ERVFRIDAYM
AQSRGELLHS LEGFLDCSLV LPPTDAPSEQ ALLSLVPVQR ELLRRRYQSS PAKPDSSFYK
GLDLNGGPDD PLQQTGQLFG GLVRDIRRRY PYYLSDITDA FSPQVLAAVI FIYFAALSPA
ITFGGLLGEK TRNQMGVSEL LISTAVQGIL FALLGAQPLL VVGFSGPLLV FEEAFFSFCE
TNGLEYIVGR VWIGFWLILL VVLVVAFEGS FLVRFISRYT QEIFSFLISL IFIYETFSKL
IKIFQDHPLQ KTYNYNVLMV PKPQGPLPNT ALLSLVLMAG TFFFAMMLRK FKNSSYFPGK
LRRVIGDFGV PISILIMVLV DFFIQDTYTQ KLSVPDGFKV SNSSARGWVI HPLGLRSEFP
IWMMFASALP ALLVFILIFL ESQITTLIVS KPERKMVKGS GFHLDLLLVV GMGGVAALFG
MPWLSATTVR SVTHANALTV MGKASTPGAA AQIQEVKEQR ISGLLVAVLV GLSILMEPIL
SRIPLAVLFG IFLYMGVTSL SGIQLFDRIL LLFKPPKYHP DVPYVKRVKT WRMHLFTGIQ
IICLAVLWVV KSTPASLALP FVLILTVPLR RVLLPLIFRN VELQCLDADD AKATFDEEEG
RDEYDEVAMP V*

Mutated AA sequence

MEELQDDYED MMEENLEQEE YEDPDIPESQ MEEPAAHDTE ATATDYHTTS HPGTHKVYVE
LQELVMDEKN QELRWMEAAR WVQLEENLGE NGAWGRPHLS HLTFWSLLEL RRVFTKGTVL
LDLQETSLAG VANQLLDRFI FEDQIRPQDR EELLRALLLK HSHAGELEAL GGVKPAVLTR
SGDPSQPLLP QHSSLETQLF CEQGDGGTEG HSPSGILEKI PPDSEATLVL VGRADFLEQP
VLGFVRLQEA AELEAVELPV PIRFLFVLLG PEAPHIDYTQ LGRAAATLMS ERVFRIDAYM
AQSRGELLHS LEGFLDCSLV LPPTDAPSEQ ALLSLVPVQR ELLRRRYQSS PAKPDSSFYK
GLDLNGGPDD PLQQTGQLFG GLVRDIRRRY PYYLSDITDA FSPQVLAAVI FIYFAALSPA
ITFGGLLGEK TRNQMGVSEL LISTAVQGIL FALLGAQPLL VVGFSGPLLV FEEAFFSFCE
TNGLEYIMGR VWIGFWLILL VVLVVAFEGS FLVRFISRYT QEIFSFLISL IFIYETFSKL
IKIFQDHPLQ KTYNYNVLMV PKPQGPLPNT ALLSLVLMAG TFFFAMMLRK FKNSSYFPGK
LRRVIGDFGV PISILIMVLV DFFIQDTYTQ KLSVPDGFKV SNSSARGWVI HPLGLRSEFP
IWMMFASALP ALLVFILIFL ESQITTLIVS KPERKMVKGS GFHLDLLLVV GMGGVAALFG
MPWLSATTVR SVTHANALTV MGKASTPGAA AQIQEVKEQR ISGLLVAVLV GLSILMEPIL
SRIPLAVLFG IFLYMGVTSL SGIQLFDRIL LLFKPPKYHP DVPYVKRVKT WRMHLFTGIQ
IICLAVLWVV KSTPASLALP FVLILTVPLR RVLLPLIFRN VELQCLDADD AKATFDEEEG
RDEYDEVAMP V*

Position of stopcodon in wt / mu CDS

2736 / 2736

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

912 / 912

Position of stopcodon in wt / mu cDNA

2886 / 2886

Position of start ATG in wt / mu cDNA

151 / 151

Last intron/exon boundary

2805

Theoretical NMD boundary in CDS

2604

Length of CDS

2736

Coding sequence (CDS) position

1462

cDNA position

1612

gDNA position

10628

Chromosomal position

44257514

Speed

0.38 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:

17:44257514C>T_1_ENST00000399246

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 17773 (pathogenic)

Model: without_aae
Tree vote: 134|66 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr17:44257514C>T (GRCh38)

Gene symbol

SLC4A1

Gene constraints

LOEUF: 0.45, LOF (oe): 0.31, misssense (oe): 0.78, synonymous (oe): 0.94 ? (gnomAD)

Ensembl transcript ID

ENST00000399246.3

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.777+1748G>A
g.10628G>A

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

BLOOD GROUP--SWANN SYSTEM
BLOOD GROUP--WALDNER TYPE
Southeast Asian ovalocytosis
BLOOD GROUP--FROESE
BLOOD GROUP--WRIGHT ANTIGEN
Malaria, susceptibility to
Hereditary spherocytosis type 4
Cryohydrocytosis
Autosomal dominant distal renal tubular acidosis
Renal tubular acidosis, distal, 4, with hemolytic anemia
BLOOD GROUP--DIEGO SYSTEM

pathogenic

ClinVar OMIM

Variant DBs

dbSNP ID	rs28931584
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	2	2

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.189	0.997
	2.227	0.958
(flanking)	-0.472	0.099

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

17

Strand

-1

Original gDNA sequence snippet

CCAACGGTCTAGAGTACATCGTGGGCCGCGTGTGGATCGGC

Altered gDNA sequence snippet

CCAACGGTCTAGAGTACATCATGGGCCGCGTGTGGATCGGC

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEELQDDYED MMEENLEQEE YEDPDIPESQ MEEPAAHDTE ATATDYHTTS HPGTHKVYVE
LQELVMDEKN QELRWMEAAR WVQLEENLGE NGAWGRPHLS HLTFWSLLEL RRVFTKGTVL
LDLQETSLAG VANQLLDRFI FEDQIRPQDR EELLRALLLK HSHAGELEAL GGVKPAVLTR
SGDPSQPLLP QHSSLETQLF CEQGDGGTEG HSPSGILEKI PPDSEATLVL VGRADFLEQP
VLGFVRLQEA AELEAVELPD TYTQKLSVPD GFKVSNSSAR GWVIHPLGLR SEFPIWMMFA
SALPALLVFI LIFLESQITT LIVSKPERKM VKGSGFHLDL LLVVGMGGVA ALFGMPWLSA
TTVRSVTHAN ALTVMGKAST PGAAAQIQEV KEQRISGLLV AVLVGLSILM EPILSRIPLA
VLFGIFLYMG VTSLSGIQLF DRILLLFKPP KYHPDVPYVK RVKTWRMHLF TGIQIICLAV
LWVVKSTPAS LALPFVLILT VPLRRVLLPL IFRNVELQCL DADDAKATFD EEEGRDEYDE
VAMPV*

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

150 / 150

Last intron/exon boundary

1706

Theoretical NMD boundary in CDS

1506

Length of CDS

1638

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

10628

Chromosomal position

44257514

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