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: ENST00000620761
Querying Taster for transcript #2: ENST00000695694
Querying Taster for transcript #3: ENST00000695732
Querying Taster for transcript #4: ENST00000695733
Querying Taster for transcript #5: ENST00000695734
Querying Taster for transcript #6: ENST00000695658
Querying Taster for transcript #7: ENST00000695648
Querying Taster for transcript #8: ENST00000695697
Querying Taster for transcript #9: ENST00000602382
Querying Taster for transcript #10: ENST00000219251
Querying Taster for transcript #11: ENST00000695659
Querying Taster for transcript #12: ENST00000602320
MT speed 2.57 s - this script 5.099182 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000219251	ACD	Deleterious	78\|22	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000620761(MANE Select)	ACD	Deleterious	80\|20	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000602382	ACD	Benign	4\|196	without_aae	No	Single base exchange	Normal
ENST00000695733	ACD	Benign	7\|193	without_aae	No	Single base exchange	Normal
ENST00000602320	ACD	Benign	12\|188	without_aae	No	Single base exchange	N/A
ENST00000695694	ACD	Benign	23\|77	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000695732	ACD	Benign	23\|77	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000695734	ACD	Benign	23\|77	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000695658	ACD	Benign	23\|77	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000695648	ACD	Benign	23\|77	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000695697	ACD	Benign	23\|77	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed
ENST00000695659	ACD	Benign	23\|77	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed

MutationT@ster 2025

Variant:

16:67657847G>T_10_ENST00000219251

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 78|22 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

LOEUF: 0.94, LOF (oe): 0.72, misssense (oe): 0.88, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000219251.13

Genbank transcript ID

NM_022914 (by similarity)

UniProt / AlphaMissense peptide

ACD_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1204C>A
g.2964C>A

AA changes

AAE:	P402T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

Species	Match	AA	Alignment
Human		402	G	A	Q	E	P	C	S	V	W	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y	E
mutated	not conserved	402	G	A	Q	E	P	C	S	V	W	E	P	T	K	R	H	R	D	G	S	A	F	Q	Y
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	458	CHAIN		lost
387	406	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEDAEAAVA GPSHAPDTSD VGATLLVSDG
THSVRCLVTR EALDTSDWEE KEFGFRGTEG RLLLLQDCGV HVQVAEGGAP AEFYLQVDRF
SLLPTEQPRL RVPGCNQDLD VQKKLYDCLE EHLSESTSSN AGLSLSQLLD EMREDQEHQG
ALVCLAESCL TLEGPCTAPP VTHWAASRCK ATGEAVYTVP SSMLCISEND QLILSSLGPC
QRTQGPELPP PDPALQDLSL TLIASPPSSP SSSGTPALPG HMSSEESGTS ISLLPALSLA
APDPGQRSSS QPSPAICSAP ATLTPRSPHA SRTPSSPLQS CTPSLSPRSH VPSPHQALVT
RPQKPSLEFK EFVGLPCKNR PPFPRTGATR GAQEPCSVWE PPKRHRDGSA FQYEYEPPCT
SLCARVQAVR LPPQLMAWAL HFLMDAQPGS EPTPM*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEDAEAAVA GPSHAPDTSD VGATLLVSDG
THSVRCLVTR EALDTSDWEE KEFGFRGTEG RLLLLQDCGV HVQVAEGGAP AEFYLQVDRF
SLLPTEQPRL RVPGCNQDLD VQKKLYDCLE EHLSESTSSN AGLSLSQLLD EMREDQEHQG
ALVCLAESCL TLEGPCTAPP VTHWAASRCK ATGEAVYTVP SSMLCISEND QLILSSLGPC
QRTQGPELPP PDPALQDLSL TLIASPPSSP SSSGTPALPG HMSSEESGTS ISLLPALSLA
APDPGQRSSS QPSPAICSAP ATLTPRSPHA SRTPSSPLQS CTPSLSPRSH VPSPHQALVT
RPQKPSLEFK EFVGLPCKNR PPFPRTGATR GAQEPCSVWE PTKRHRDGSA FQYEYEPPCT
SLCARVQAVR LPPQLMAWAL HFLMDAQPGS EPTPM*

Position of stopcodon in wt / mu CDS

1368 / 1368

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

456 / 456

Position of stopcodon in wt / mu cDNA

1958 / 1958

Position of start ATG in wt / mu cDNA

591 / 591

Last intron/exon boundary

1879

Theoretical NMD boundary in CDS

1238

Length of CDS

1368

Coding sequence (CDS) position

1204

cDNA position

1794

gDNA position

2964

Chromosomal position

67657847

Speed

0.32 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:

16:67657847G>T_1_ENST00000620761

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 80|20 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

LOEUF: 0.92, LOF (oe): 0.71, misssense (oe): 0.88, synonymous (oe): 1.07 ? (gnomAD)

Ensembl transcript ID

ENST00000620761.6

Genbank transcript ID

NM_001082486 (exact from MANE)

UniProt / AlphaMissense peptide

ACD_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1213C>A
g.2964C>A

AA changes

AAE:	P405T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

Species	Match	AA	Alignment
Human		405	G	A	Q	E	P	C	S	V	W	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y	E
mutated	not conserved	405	G	A	Q	E	P	C	S	V	W	E	P	T	K	R	H	R	D	G	S	A	F	Q	Y
Ptroglodytes	all identical	405	G	A	Q	E	P	C	S	V	W	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y
Mmulatta	all identical	404	G	A	Q	E	P	C	R	V	W	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y
Fcatus	all identical	401	G	A	L	E	S	S	P	V	G	D	P	P	K	K	H	R	D	G	S	A	F	Q	Y
Mmusculus	all identical	373	S	A	Q	E	L	C	S	V	W	E	P	P	E	R	H	R	D	T	S	A	F	Q	Y
Ggallus	no alignment	n/a
Trubripes	all identical	421	S	S	S	P	P	S	W	L	F	DTQTHGGAREEHRHHSVLRK	T	P	S	V	H	S	D	G	R	S	F	S	Y
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	458	CHAIN		lost
387	406	REGION		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL
SLAAPDPGQR SSSQPSPAIC SAPATLTPRS PHASRTPSSP LQSCTPSLSP RSHVPSPHQA
LVTRPQKPSL EFKEFVGLPC KNRPPFPRTG ATRGAQEPCS VWEPPKRHRD GSAFQYEYEP
PCTSLCARVQ AVRLPPQLMA WALHFLMDAQ PGSEPTPM*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL
SLAAPDPGQR SSSQPSPAIC SAPATLTPRS PHASRTPSSP LQSCTPSLSP RSHVPSPHQA
LVTRPQKPSL EFKEFVGLPC KNRPPFPRTG ATRGAQEPCS VWEPTKRHRD GSAFQYEYEP
PCTSLCARVQ AVRLPPQLMA WALHFLMDAQ PGSEPTPM*

Position of stopcodon in wt / mu CDS

1377 / 1377

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

459 / 459

Position of stopcodon in wt / mu cDNA

1417 / 1417

Position of start ATG in wt / mu cDNA

41 / 41

Last intron/exon boundary

1338

Theoretical NMD boundary in CDS

1247

Length of CDS

1377

Coding sequence (CDS) position

1213

cDNA position

1253

gDNA position

2964

Chromosomal position

67657847

Speed

0.23 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:

16:67657847G>T_9_ENST00000602382

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 4|196 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

LOEUF: 1.11, LOF (oe): 0.77, misssense (oe): 1.00, synonymous (oe): 1.13 ? (gnomAD)

Ensembl transcript ID

ENST00000602382.6

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.879C>A
g.2964C>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	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGPEL PGEPRSPALS GNPQRGIVMV
LPSSMSMSHP ARPSVLGSKL SGFLPSSWPG PCTF*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGPEL PGEPRSPALS GNPQRGIVMV
LPSSMSMSHP ARPSVLGSKL SGFLPSSWPG PCTF*

Position of stopcodon in wt / mu CDS

1005 / 1005

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

335 / 335

Position of stopcodon in wt / mu cDNA

1573 / 1573

Position of start ATG in wt / mu cDNA

569 / 569

Last intron/exon boundary

1532

Theoretical NMD boundary in CDS

913

Length of CDS

1005

Coding sequence (CDS) position

879

cDNA position

1447

gDNA position

2964

Chromosomal position

67657847

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:

16:67657847G>T_4_ENST00000695733

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 7|193 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

no data

Ensembl transcript ID

ENST00000695733.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.792C>A
g.2964C>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	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

No

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPGEPRSPAL SGNPQRGIVM VLPSSMSMSH PARPSVLGSK LSGFLPSSWP
GPCTF*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPGEPRSPAL SGNPQRGIVM VLPSSMSMSH PARPSVLGSK LSGFLPSSWP
GPCTF*

Position of stopcodon in wt / mu CDS

918 / 918

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

306 / 306

Position of stopcodon in wt / mu cDNA

958 / 958

Position of start ATG in wt / mu cDNA

41 / 41

Last intron/exon boundary

917

Theoretical NMD boundary in CDS

826

Length of CDS

918

Coding sequence (CDS) position

792

cDNA position

832

gDNA position

2964

Chromosomal position

67657847

Speed

0.14 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:

16:67657847G>T_12_ENST00000602320

Back to summary table

Prediction:

BenignPermalink

Summary:

Model: without_aae
Tree vote: 12|188 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

LOEUF: 0.91, LOF (oe): 0.69, misssense (oe): 0.88, synonymous (oe): 1.08 ? (gnomAD)

Ensembl transcript ID

ENST00000602320.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1198-33C>A
g.2964C>A

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	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

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

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEDAEAAVA GPSHAPDTSD VGATLLVSDG
THSVRCLVTR EALDTSDWEE KEFGFRGTEG RLLLLQDCGV HVQVAEGGAP AEFYLQVDRF
SLLPTEQPRL RVPGCNQDLD VQKKLYDCLE EHLSESTSSN AGLSLSQLLD EMREDQEHQG
ALVCLAESCL TLEGPCTAPP VTHWAASRCK ATGEAVYTVP SSMLCISEND QLILSSLGPC
QRTQGPELPP PDPALQDLSL TLIASPPSSP SSSGTPALPG HMSSEESGTS ISLLPALSLA
APDPGQRSSS QPSPAICSAP ATLTPRSPHA SRTPSSPLQS CTPSLSPRSH VPSPHQALVT
RPQKPSLEFK EFVGLPCKNR PPFPRTGATR GAQEPCSVWY EYEPPCTSLC ARVQAVRLPP
QLMAWALHFL MDAQPGSEPT PM*

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

20 / 20

Last intron/exon boundary

1269

Theoretical NMD boundary in CDS

1199

Length of CDS

1329

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

2964

Chromosomal position

67657847

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:

16:67657847G>T_2_ENST00000695694

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 23|77 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

no data

Ensembl transcript ID

ENST00000695694.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1168C>A
g.2964C>A

AA changes

AAE:	P390T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

Species	Match	AA	Alignment
Human		390	G	A	Q	E	P	C	S	V	W	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y	E
mutated	not conserved	390	G	A	Q	E	P	C	S	V	W	E	P	T	K	R	H	R	D	G	S	A	F	Q	Y
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)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGWEH LSESTSSNAG LSLSQLLDEM REDQEHQGAL VCLAESCLTL
EGPCTAPPVT HWAASRCKAT GEAVYTVPSS MLCISENDQL ILSSLGPCQR TQGPELPPPD
PALQDLSLTL IASPPSSPSS SGTPALPGHM SSEESGTSIS LLPALSLAAP DPGQRSSSQP
SPAICSAPAT LTPRSPHASR TPSSPLQSCT PSLSPRSHVP SPHQALVTRP QKPSLEFKEF
VGLPCKNRPP FPRTGATRGA QEPCSVWEPP KRHRDGSAFQ YEYEPPCTSL CARVQAVRLP
PQLMAWALHF LMDAQPGSEP TPM*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGWEH LSESTSSNAG LSLSQLLDEM REDQEHQGAL VCLAESCLTL
EGPCTAPPVT HWAASRCKAT GEAVYTVPSS MLCISENDQL ILSSLGPCQR TQGPELPPPD
PALQDLSLTL IASPPSSPSS SGTPALPGHM SSEESGTSIS LLPALSLAAP DPGQRSSSQP
SPAICSAPAT LTPRSPHASR TPSSPLQSCT PSLSPRSHVP SPHQALVTRP QKPSLEFKEF
VGLPCKNRPP FPRTGATRGA QEPCSVWEPT KRHRDGSAFQ YEYEPPCTSL CARVQAVRLP
PQLMAWALHF LMDAQPGSEP TPM*

Position of stopcodon in wt / mu CDS

1332 / 1332

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

444 / 444

Position of stopcodon in wt / mu cDNA

1372 / 1372

Position of start ATG in wt / mu cDNA

41 / 41

Last intron/exon boundary

1293

Theoretical NMD boundary in CDS

1202

Length of CDS

1332

Coding sequence (CDS) position

1168

cDNA position

1208

gDNA position

2964

Chromosomal position

67657847

Speed

0.30 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:

16:67657847G>T_3_ENST00000695732

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 23|77 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

no data

Ensembl transcript ID

ENST00000695732.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.652C>A
g.2964C>A

AA changes

AAE:	P218T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

Species	Match	AA	Alignment
Human		218	W	A	A	S	R	C	K	A	T	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y	E
mutated	not conserved	218	W	A	A	S	R	C	K	A	T	E	P	T	K	R	H	R	D	G	S	A	F	Q	Y
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)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

GATGCAAGGCCACGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

GATGCAAGGCCACGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATEPPKR HRDGSAFQYE YEPPCTSLCA
RVQAVRLPPQ LMAWALHFLM DAQPGSEPTP M*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATEPTKR HRDGSAFQYE YEPPCTSLCA
RVQAVRLPPQ LMAWALHFLM DAQPGSEPTP M*

Position of stopcodon in wt / mu CDS

816 / 816

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

272 / 272

Position of stopcodon in wt / mu cDNA

856 / 856

Position of start ATG in wt / mu cDNA

41 / 41

Last intron/exon boundary

777

Theoretical NMD boundary in CDS

686

Length of CDS

816

Coding sequence (CDS) position

652

cDNA position

692

gDNA position

2964

Chromosomal position

67657847

Speed

0.29 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:

16:67657847G>T_5_ENST00000695734

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 23|77 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

no data

Ensembl transcript ID

ENST00000695734.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1213C>A
g.2964C>A

AA changes

AAE:	P405T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

Species	Match	AA	Alignment
Human		405	G	A	Q	E	P	C	S	V	W	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y	E
mutated	not conserved	405	G	A	Q	E	P	C	S	V	W	E	P	T	K	R	H	R	D	G	S	A	F	Q	Y
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)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL
SLAAPDPGQR SSSQPSPAIC SAPATLTPRS PHASRTPSSP LQSCTPSLSP RSHVPSPHQA
LVTRPQKPSL EFKEFVGLPC KNRPPFPRTG ATRGAQEPCS VWEPPKRHRD GSAFQYEYEP
PCTSLCARVQ AVSGGFFPGF LPSSWPGPCT F*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL
SLAAPDPGQR SSSQPSPAIC SAPATLTPRS PHASRTPSSP LQSCTPSLSP RSHVPSPHQA
LVTRPQKPSL EFKEFVGLPC KNRPPFPRTG ATRGAQEPCS VWEPTKRHRD GSAFQYEYEP
PCTSLCARVQ AVSGGFFPGF LPSSWPGPCT F*

Position of stopcodon in wt / mu CDS

1356 / 1356

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

452 / 452

Position of stopcodon in wt / mu cDNA

1396 / 1396

Position of start ATG in wt / mu cDNA

41 / 41

Last intron/exon boundary

1338

Theoretical NMD boundary in CDS

1247

Length of CDS

1356

Coding sequence (CDS) position

1213

cDNA position

1253

gDNA position

2964

Chromosomal position

67657847

Speed

0.31 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:

16:67657847G>T_6_ENST00000695658

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 23|77 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

no data

Ensembl transcript ID

ENST00000695658.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1036C>A
g.2964C>A

AA changes

AAE:	P346T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

Species	Match	AA	Alignment
Human		346	G	A	Q	E	P	C	S	V	W	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y	E
mutated	not conserved	346	G	A	Q	E	P	C	S	V	W	E	P	T	K	R	H	R	D	G	S	A	F	Q	Y
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)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL
SLAAPDPGQR SSSQPSPAIC SAPATLTPRT GATRGAQEPC SVWEPPKRHR DGSAFQYEYE
PPCTSLCARV QAVRLPPQLM AWALHFLMDA QPGSEPTPM*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL
SLAAPDPGQR SSSQPSPAIC SAPATLTPRT GATRGAQEPC SVWEPTKRHR DGSAFQYEYE
PPCTSLCARV QAVRLPPQLM AWALHFLMDA QPGSEPTPM*

Position of stopcodon in wt / mu CDS

1200 / 1200

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

400 / 400

Position of stopcodon in wt / mu cDNA

1240 / 1240

Position of start ATG in wt / mu cDNA

41 / 41

Last intron/exon boundary

1161

Theoretical NMD boundary in CDS

1070

Length of CDS

1200

Coding sequence (CDS) position

1036

cDNA position

1076

gDNA position

2964

Chromosomal position

67657847

Speed

0.27 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:

16:67657847G>T_7_ENST00000695648

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 23|77 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

no data

Ensembl transcript ID

ENST00000695648.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1195C>A
g.2964C>A

AA changes

AAE:	P399T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

Species	Match	AA	Alignment
Human		399	G	A	Q	E	P	C	S	V	W	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y	E
mutated	not conserved	399	G	A	Q	E	P	C	S	V	W	E	P	T	K	R	H	R	D	G	S	A	F	Q	Y
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)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQPAEF YLQVDRFSLL
PTEQPRLRVP GCNQDLDVQK KLYDCLEEHL SESTSSNAGL SLSQLLDEMR EDQEHQGALV
CLAESCLTLE GPCTAPPVTH WAASRCKATG EAVYTVPSSM LCISENDQLI LSSLGPCQRT
QGPELPPPDP ALQDLSLTLI ASPPSSPSSS GTPALPGHMS SEESGTSISL LPALSLAAPD
PGQRSSSQPS PAICSAPATL TPRSPHASRT PSSPLQSCTP SLSPRSHVPS PHQALVTRPQ
KPSLEFKEFV GLPCKNRPPF PRTGATRGAQ EPCSVWEPPK RHRDGSAFQY EYEPPCTSLC
ARVQAVRLPP QLMAWALHFL MDAQPGSEPT PM*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQPAEF YLQVDRFSLL
PTEQPRLRVP GCNQDLDVQK KLYDCLEEHL SESTSSNAGL SLSQLLDEMR EDQEHQGALV
CLAESCLTLE GPCTAPPVTH WAASRCKATG EAVYTVPSSM LCISENDQLI LSSLGPCQRT
QGPELPPPDP ALQDLSLTLI ASPPSSPSSS GTPALPGHMS SEESGTSISL LPALSLAAPD
PGQRSSSQPS PAICSAPATL TPRSPHASRT PSSPLQSCTP SLSPRSHVPS PHQALVTRPQ
KPSLEFKEFV GLPCKNRPPF PRTGATRGAQ EPCSVWEPTK RHRDGSAFQY EYEPPCTSLC
ARVQAVRLPP QLMAWALHFL MDAQPGSEPT PM*

Position of stopcodon in wt / mu CDS

1359 / 1359

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

453 / 453

Position of stopcodon in wt / mu cDNA

1416 / 1416

Position of start ATG in wt / mu cDNA

58 / 58

Last intron/exon boundary

1337

Theoretical NMD boundary in CDS

1229

Length of CDS

1359

Coding sequence (CDS) position

1195

cDNA position

1252

gDNA position

2964

Chromosomal position

67657847

Speed

0.22 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:

16:67657847G>T_8_ENST00000695697

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 23|77 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

no data

Ensembl transcript ID

ENST00000695697.1

Genbank transcript ID

NM_001410884 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1126C>A
g.2964C>A

AA changes

AAE:	P376T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

Species	Match	AA	Alignment
Human		376	G	A	Q	E	P	C	S	V	W	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y	E
mutated	not conserved	376	G	A	Q	E	P	C	S	V	W	E	P	T	K	R	H	R	D	G	S	A	F	Q	Y
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)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

7

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

CCTGCTCTGTCTGGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGTP ALPGHMSSEE SGTSISLLPA LSLAAPDPGQ RSSSQPSPAI CSAPATLTPR
SPHASRTPSS PLQSCTPSLS PRSHVPSPHQ ALVTRPQKPS LEFKEFVGLP CKNRPPFPRT
GATRGAQEPC SVWEPPKRHR DGSAFQYEYE PPCTSLCARV QAVRLPPQLM AWALHFLMDA
QPGSEPTPM*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGTP ALPGHMSSEE SGTSISLLPA LSLAAPDPGQ RSSSQPSPAI CSAPATLTPR
SPHASRTPSS PLQSCTPSLS PRSHVPSPHQ ALVTRPQKPS LEFKEFVGLP CKNRPPFPRT
GATRGAQEPC SVWEPTKRHR DGSAFQYEYE PPCTSLCARV QAVRLPPQLM AWALHFLMDA
QPGSEPTPM*

Position of stopcodon in wt / mu CDS

1290 / 1290

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

430 / 430

Position of stopcodon in wt / mu cDNA

1368 / 1368

Position of start ATG in wt / mu cDNA

79 / 79

Last intron/exon boundary

1289

Theoretical NMD boundary in CDS

1160

Length of CDS

1290

Coding sequence (CDS) position

1126

cDNA position

1204

gDNA position

2964

Chromosomal position

67657847

Speed

0.22 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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MutationT@ster 2025

Variant:

16:67657847G>T_11_ENST00000695659

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed

Model: simple_aae
Tree vote: 23|77 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr16:67657847G>T (GRCh38)

Gene symbol

ACD

Gene constraints

no data

Ensembl transcript ID

ENST00000695659.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1231C>A
g.2964C>A

AA changes

AAE:	P411T	?
Score:	38

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs201441120
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	80	80

Protein conservation

Species	Match	AA	Alignment
Human		411	S	V	W	T	P	Y	P	F	Q	E	P	P	K	R	H	R	D	G	S	A	F	Q	Y	E
mutated	not conserved	411	S	V	W	T	P	Y	P	F	Q	E	P	T	K	R	H	R	D	G	S	A	F
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)	1.417	0.284
	2.055	0.294
(flanking)	-0.962	0.032

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

25

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

16

Strand

-1

Original gDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered gDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Original cDNA sequence snippet

CATACCCCTTTCAGGAACCCCCAAAGAGGCATCGTGATGGT

Altered cDNA sequence snippet

CATACCCCTTTCAGGAACCCACAAAGAGGCATCGTGATGGT

Wildtype AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL
SLAAPDPGQR SSSQPSPAIC SAPATLTPRS PHASRTPSSP LQSCTPSLSP RSHVPSPHQA
LVTRPQKPSL EFKEFVGLPC KNRPPFPRTG ATRGAQEPCS VWTPYPFQEP PKRHRDGSAF
QYEYEPPCTS LCARVQAVRL PPQLMAWALH FLMDAQPGSE PTPM*

Mutated AA sequence

MAGSGRLVLR PWIRELILGS ETPSSPRAGQ LLEVLQDAEA AVAGPSHAPD TSDVGATLLV
SDGTHSVRCL VTREALDTSD WEEKEFGFRG TEGRLLLLQD CGVHVQVAEG GAPAEFYLQV
DRFSLLPTEQ PRLRVPGCNQ DLDVQKKLYD CLEEHLSEST SSNAGLSLSQ LLDEMREDQE
HQGALVCLAE SCLTLEGPCT APPVTHWAAS RCKATGEAVY TVPSSMLCIS ENDQLILSSL
GPCQRTQGPE LPPPDPALQD LSLTLIASPP SSPSSSGTPA LPGHMSSEES GTSISLLPAL
SLAAPDPGQR SSSQPSPAIC SAPATLTPRS PHASRTPSSP LQSCTPSLSP RSHVPSPHQA
LVTRPQKPSL EFKEFVGLPC KNRPPFPRTG ATRGAQEPCS VWTPYPFQEP TKRHRDGSAF
QYEYEPPCTS LCARVQAVRL PPQLMAWALH FLMDAQPGSE PTPM*

Position of stopcodon in wt / mu CDS

1395 / 1395

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

465 / 465

Position of stopcodon in wt / mu cDNA

1435 / 1435

Position of start ATG in wt / mu cDNA

41 / 41

Last intron/exon boundary

1356

Theoretical NMD boundary in CDS

1265

Length of CDS

1395

Coding sequence (CDS) position

1231

cDNA position

1271

gDNA position

2964

Chromosomal position

67657847

Speed

0.23 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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