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: ENST00000649902
Querying Taster for transcript #2: ENST00000648758
Querying Taster for transcript #3: ENST00000648064
Querying Taster for transcript #4: ENST00000647789
MT speed 0.21 s - this script 2.597498 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
ENST00000648758	ALDOB	Deleterious	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000648064	ALDOB	Deleterious	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000647789(MANE Select)	ALDOB	Deleterious	96\|4	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000649902	ALDOB	Deleterious	99\|1	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

9:101427504C>T_2_ENST00000648758

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 96|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:101427504C>T (GRCh38)

Gene symbol

ALDOB

Gene constraints

LOEUF: 1.18, LOF (oe): 0.89, misssense (oe): 1.10, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000648758.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ALDOB_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.518G>A
g.22161G>A

AA changes

AAE:	R173H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs756357123
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	14	14

Protein conservation

Species	Match	AA	Alignment
Human		173	L	A	I	Q	E	N	A	N	A	L	A	R	Y	A	S	I	C	Q	Q	N	G	L	V	P
mutated	not conserved	173	L	A	I	Q	E	N	A	N	A	L	A	H	Y	A	S	I	C	Q	Q
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
2	364	CHAIN		lost
161	179	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.792	1
	7.905	1
(flanking)	6.285	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

9

Strand

-1

Original gDNA sequence snippet

AAACGCCAACGCCCTGGCTCGCTACGCCAGCATCTGTCAGC

Altered gDNA sequence snippet

AAACGCCAACGCCCTGGCTCACTACGCCAGCATCTGTCAGC

Original cDNA sequence snippet

AAACGCCAACGCCCTGGCTCGCTACGCCAGCATCTGTCAGC

Altered cDNA sequence snippet

AAACGCCAACGCCCTGGCTCACTACGCCAGCATCTGTCAGC

Wildtype AA sequence

MAHRFPALTQ EQKKELSEIA QSIVANGKGI LAADESVGTM GNRLQRIKVE NTEENRRQFR
EILFSVDSSI NQSIGGVILF HETLYQKDSQ GKLFRNILKE KGIVVGIKLD QGGAPLAGTN
KETTIQGLDG LSERCAQYKK DGVDFGKWRA VLRIADQCPS SLAIQENANA LARYASICQQ
NGLVPIVEPE VIPDGDHDLE HCQYVTEKVL AAVYKALNDH HVYLEGTLLK PNMVTAGHAC
TKKYTPEQVA MATVTALHRT VPAAVPGICF LSGGMSEEDA TLNLNAINLC PLPKPWKLSF
SYGRALQASA LAAWGGKAAN KEATQEAFMK RAMANCQAAK GQYVHTGSSG AASTQSLFTA
CYTY*

Mutated AA sequence

MAHRFPALTQ EQKKELSEIA QSIVANGKGI LAADESVGTM GNRLQRIKVE NTEENRRQFR
EILFSVDSSI NQSIGGVILF HETLYQKDSQ GKLFRNILKE KGIVVGIKLD QGGAPLAGTN
KETTIQGLDG LSERCAQYKK DGVDFGKWRA VLRIADQCPS SLAIQENANA LAHYASICQQ
NGLVPIVEPE VIPDGDHDLE HCQYVTEKVL AAVYKALNDH HVYLEGTLLK PNMVTAGHAC
TKKYTPEQVA MATVTALHRT VPAAVPGICF LSGGMSEEDA TLNLNAINLC PLPKPWKLSF
SYGRALQASA LAAWGGKAAN KEATQEAFMK RAMANCQAAK GQYVHTGSSG AASTQSLFTA
CYTY*

Position of stopcodon in wt / mu CDS

1095 / 1095

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

365 / 365

Position of stopcodon in wt / mu cDNA

1269 / 1269

Position of start ATG in wt / mu cDNA

175 / 175

Last intron/exon boundary

1173

Theoretical NMD boundary in CDS

948

Length of CDS

1095

Coding sequence (CDS) position

518

cDNA position

692

gDNA position

22161

Chromosomal position

101427504

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:

9:101427504C>T_3_ENST00000648064

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 96|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:101427504C>T (GRCh38)

Gene symbol

ALDOB

Gene constraints

LOEUF: 1.18, LOF (oe): 0.89, misssense (oe): 1.10, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000648064.1

Genbank transcript ID

UniProt / AlphaMissense peptide

ALDOB_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.518G>A
g.22161G>A

AA changes

AAE:	R173H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs756357123
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	14	14

Protein conservation

Species	Match	AA	Alignment
Human		173	L	A	I	Q	E	N	A	N	A	L	A	R	Y	A	S	I	C	Q	Q	N	G	L	V	P
mutated	not conserved	173	L	A	I	Q	E	N	A	N	A	L	A	H	Y	A	S	I	C	Q	Q
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
2	364	CHAIN		lost
161	179	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.792	1
	7.905	1
(flanking)	6.285	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

9

Strand

-1

Original gDNA sequence snippet

AAACGCCAACGCCCTGGCTCGCTACGCCAGCATCTGTCAGC

Altered gDNA sequence snippet

AAACGCCAACGCCCTGGCTCACTACGCCAGCATCTGTCAGC

Original cDNA sequence snippet

AAACGCCAACGCCCTGGCTCGCTACGCCAGCATCTGTCAGC

Altered cDNA sequence snippet

AAACGCCAACGCCCTGGCTCACTACGCCAGCATCTGTCAGC

Wildtype AA sequence

MAHRFPALTQ EQKKELSEIA QSIVANGKGI LAADESVGTM GNRLQRIKVE NTEENRRQFR
EILFSVDSSI NQSIGGVILF HETLYQKDSQ GKLFRNILKE KGIVVGIKLD QGGAPLAGTN
KETTIQGLDG LSERCAQYKK DGVDFGKWRA VLRIADQCPS SLAIQENANA LARYASICQQ
NGLVPIVEPE VIPDGDHDLE HCQYVTEKVL AAVYKALNDH HVYLEGTLLK PNMVTAGHAC
TKKYTPEQVA MATVTALHRT VPAAVPGICF LSGGMSEEDA TLNLNAINLC PLPKPWKLSF
SYGRALQASA LAAWGGKAAN KEATQEAFMK RAMANCQAAK GQYVHTGSSG AASTQSLFTA
CYTY*

Mutated AA sequence

MAHRFPALTQ EQKKELSEIA QSIVANGKGI LAADESVGTM GNRLQRIKVE NTEENRRQFR
EILFSVDSSI NQSIGGVILF HETLYQKDSQ GKLFRNILKE KGIVVGIKLD QGGAPLAGTN
KETTIQGLDG LSERCAQYKK DGVDFGKWRA VLRIADQCPS SLAIQENANA LAHYASICQQ
NGLVPIVEPE VIPDGDHDLE HCQYVTEKVL AAVYKALNDH HVYLEGTLLK PNMVTAGHAC
TKKYTPEQVA MATVTALHRT VPAAVPGICF LSGGMSEEDA TLNLNAINLC PLPKPWKLSF
SYGRALQASA LAAWGGKAAN KEATQEAFMK RAMANCQAAK GQYVHTGSSG AASTQSLFTA
CYTY*

Position of stopcodon in wt / mu CDS

1095 / 1095

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

365 / 365

Position of stopcodon in wt / mu cDNA

1242 / 1242

Position of start ATG in wt / mu cDNA

148 / 148

Last intron/exon boundary

1146

Theoretical NMD boundary in CDS

948

Length of CDS

1095

Coding sequence (CDS) position

518

cDNA position

665

gDNA position

22161

Chromosomal position

101427504

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:

9:101427504C>T_4_ENST00000647789

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 96|4 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:101427504C>T (GRCh38)

Gene symbol

ALDOB

Gene constraints

LOEUF: 1.18, LOF (oe): 0.89, misssense (oe): 1.10, synonymous (oe): 0.99 ? (gnomAD)

Ensembl transcript ID

ENST00000647789.2

Genbank transcript ID

NM_000035 (exact from MANE)

UniProt / AlphaMissense peptide

ALDOB_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.518G>A
g.22161G>A

AA changes

AAE:	R173H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs756357123
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	14	14

Protein conservation

Species	Match	AA	Alignment
Human		173	L	A	I	Q	E	N	A	N	A	L	A	R	Y	A	S	I	C	Q	Q	N	G	L	V	P
mutated	not conserved	173	L	A	I	Q	E	N	A	N	A	L	A	H	Y	A	S	I	C	Q	Q
Ptroglodytes	all identical	173	L	A	I	Q	E	N	A	N	A	L	A	R	Y	A	S	I	C	Q	Q
Mmulatta	all identical	173	L	A	I	Q	E	N	A	N	A	L	A	R	Y	A	S	I	C	Q	Q
Fcatus	all identical	173	L	A	I	Q	E	N	A	N	A	L	A	R	Y	A	S	I	C	Q	Q
Mmusculus	all identical	173	L	A	I	Q	E	N	A	N	A	L	A	R	Y	A	S	I	C	Q	Q
Ggallus	all identical	173	L	A	I	Q	E	N	A	N	T	L	A	R	Y	A	S	I	C	Q	Q
Trubripes	all identical	224	L	A	I	A	E	N	A	N	V	L	A	R	Y	A	S	I	C	Q	Q
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	173	L	A	I	Y	E	N	A	N	V	L	A	R	Y	A	S	I	C	Q	Q

Protein features

Start (aa)	End (aa)	Feature	Details
2	364	CHAIN		lost
161	179	HELIX		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.792	1
	7.905	1
(flanking)	6.285	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

9

Strand

-1

Original gDNA sequence snippet

AAACGCCAACGCCCTGGCTCGCTACGCCAGCATCTGTCAGC

Altered gDNA sequence snippet

AAACGCCAACGCCCTGGCTCACTACGCCAGCATCTGTCAGC

Original cDNA sequence snippet

AAACGCCAACGCCCTGGCTCGCTACGCCAGCATCTGTCAGC

Altered cDNA sequence snippet

AAACGCCAACGCCCTGGCTCACTACGCCAGCATCTGTCAGC

Wildtype AA sequence

MAHRFPALTQ EQKKELSEIA QSIVANGKGI LAADESVGTM GNRLQRIKVE NTEENRRQFR
EILFSVDSSI NQSIGGVILF HETLYQKDSQ GKLFRNILKE KGIVVGIKLD QGGAPLAGTN
KETTIQGLDG LSERCAQYKK DGVDFGKWRA VLRIADQCPS SLAIQENANA LARYASICQQ
NGLVPIVEPE VIPDGDHDLE HCQYVTEKVL AAVYKALNDH HVYLEGTLLK PNMVTAGHAC
TKKYTPEQVA MATVTALHRT VPAAVPGICF LSGGMSEEDA TLNLNAINLC PLPKPWKLSF
SYGRALQASA LAAWGGKAAN KEATQEAFMK RAMANCQAAK GQYVHTGSSG AASTQSLFTA
CYTY*

Mutated AA sequence

MAHRFPALTQ EQKKELSEIA QSIVANGKGI LAADESVGTM GNRLQRIKVE NTEENRRQFR
EILFSVDSSI NQSIGGVILF HETLYQKDSQ GKLFRNILKE KGIVVGIKLD QGGAPLAGTN
KETTIQGLDG LSERCAQYKK DGVDFGKWRA VLRIADQCPS SLAIQENANA LAHYASICQQ
NGLVPIVEPE VIPDGDHDLE HCQYVTEKVL AAVYKALNDH HVYLEGTLLK PNMVTAGHAC
TKKYTPEQVA MATVTALHRT VPAAVPGICF LSGGMSEEDA TLNLNAINLC PLPKPWKLSF
SYGRALQASA LAAWGGKAAN KEATQEAFMK RAMANCQAAK GQYVHTGSSG AASTQSLFTA
CYTY*

Position of stopcodon in wt / mu CDS

1095 / 1095

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

365 / 365

Position of stopcodon in wt / mu cDNA

1171 / 1171

Position of start ATG in wt / mu cDNA

77 / 77

Last intron/exon boundary

1075

Theoretical NMD boundary in CDS

948

Length of CDS

1095

Coding sequence (CDS) position

518

cDNA position

594

gDNA position

22161

Chromosomal position

101427504

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:

9:101427504C>T_1_ENST00000649902

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 99|1 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr9:101427504C>T (GRCh38)

Gene symbol

ALDOB

Gene constraints

LOEUF: 1.28, LOF (oe): 0.96, misssense (oe): 1.11, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000649902.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.518G>A
g.22161G>A

AA changes

AAE:	R173H	?
Score:	29

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs756357123
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	14	14

Protein conservation

Species	Match	AA	Alignment
Human		173	L	A	I	Q	E	N	A	N	A	L	A	R	Y	A	S	I	C	Q	Q	N	G	L	V	P
mutated	not conserved	173	L	A	I	Q	E	N	A	N	A	L	A	H	Y	A	S	I	C	Q	Q
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

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	3.792	1
	7.905	1
(flanking)	6.285	1

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

23

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

9

Strand

-1

Original gDNA sequence snippet

AAACGCCAACGCCCTGGCTCGCTACGCCAGCATCTGTCAGC

Altered gDNA sequence snippet

AAACGCCAACGCCCTGGCTCACTACGCCAGCATCTGTCAGC

Original cDNA sequence snippet

AAACGCCAACGCCCTGGCTCGCTACGCCAGCATCTGTCAGC

Altered cDNA sequence snippet

AAACGCCAACGCCCTGGCTCACTACGCCAGCATCTGTCAGC

Wildtype AA sequence

MAHRFPALTQ EQKKELSEIA QSIVANGKGI LAADESVGTM GNRLQRIKVE NTEENRRQFR
EILFSVDSSI NQSIGGVILF HETLYQKDSQ GKLFRNILKE KGIVVGIKLD QGGAPLAGTN
KETTIQGLDG LSERCAQYKK DGVDFGKWRA VLRIADQCPS SLAIQENANA LARYASICQQ
NGLVPIVEPE VIPDGDHDLE HCQYVTEKVL AAVYKALNDH HVYLEGTLLK PNMVTAGHAC
TKKYTPEQVA MATVTALHRT VPAAVPGICF LSGGMSEEDA TLNLNAINLC PLPKPWKLSF
SYGRALQASA LAAWGGKAAN KEATQEAFMK RAMVRCCHLL ST*

Mutated AA sequence

MAHRFPALTQ EQKKELSEIA QSIVANGKGI LAADESVGTM GNRLQRIKVE NTEENRRQFR
EILFSVDSSI NQSIGGVILF HETLYQKDSQ GKLFRNILKE KGIVVGIKLD QGGAPLAGTN
KETTIQGLDG LSERCAQYKK DGVDFGKWRA VLRIADQCPS SLAIQENANA LAHYASICQQ
NGLVPIVEPE VIPDGDHDLE HCQYVTEKVL AAVYKALNDH HVYLEGTLLK PNMVTAGHAC
TKKYTPEQVA MATVTALHRT VPAAVPGICF LSGGMSEEDA TLNLNAINLC PLPKPWKLSF
SYGRALQASA LAAWGGKAAN KEATQEAFMK RAMVRCCHLL ST*

Position of stopcodon in wt / mu CDS

1029 / 1029

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

343 / 343

Position of stopcodon in wt / mu cDNA

1049 / 1049

Position of start ATG in wt / mu cDNA

21 / 21

Last intron/exon boundary

819

Theoretical NMD boundary in CDS

748

Length of CDS

1029

Coding sequence (CDS) position

518

cDNA position

538

gDNA position

22161

Chromosomal position

101427504

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

Back to summary table