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: ENST00000388988
Querying Taster for transcript #2: ENST00000569878
Querying Taster for transcript #3: ENST00000566332
MT speed 0.08 s - this script 2.486859 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
ENST00000388988(MANE Select)	HYKK	Deleterious	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD Known as potential disease variant: ClinVar ID 3336640 (likely pathogenic)
ENST00000569878	HYKK	Deleterious	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD Known as potential disease variant: ClinVar ID 3336640 (likely pathogenic)
ENST00000566332	HYKK	Deleterious	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD Known as potential disease variant: ClinVar ID 3336640 (likely pathogenic)

MutationT@ster 2025

Variant:

15:78513681T>C_1_ENST00000388988

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Prediction:

DeleteriousPermalink

Summary:

Homozygous in gnomAD
Known as potential disease variant: ClinVar ID 3336640 (likely pathogenic)

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to ClinVar,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr15:78513681T>C (GRCh38)

Gene symbol

HYKK

Gene constraints

LOEUF: 0.95, LOF (oe): 0.62, misssense (oe): 0.82, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000388988.9

Genbank transcript ID

NM_001013619 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.337+256T>C
g.6118T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Chronic obstructive pulmonary disease

likely pathogenic

ClinVar OMIM

Variant DBs

dbSNP ID	rs8034191
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	6412	28593	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.197	0.001
	0.649	0.002
(flanking)	0.437	0.001

?

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

15

Strand

1

Original gDNA sequence snippet

TGTGGTATAAGTTTTCTGTTTAGAAAGGCCCTGACAGATAG

Altered gDNA sequence snippet

TGTGGTATAAGTTTTCTGTTCAGAAAGGCCCTGACAGATAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSSGNYQQSE ALSKPTFSEE QASALVESVF GLKVSKVRPL PSYDDQNFHV YVSKTKDGPT
EYVLKISNTK ASKNPDLIEV QNHIIMFLKA AGFPTASVCH TKGDNTASLV SVDSGSEIKS
YLVRLLTYLP GRPIAELPVS PQLLYEIGKL AAKLDKTLQR FHHPKLSSLH RENFIWNLKN
VPLLEKYLYA LGQNRNREIV EHVIHLFKEE VMTKLSHFRE CINHGDLNDH NILIESSKSA
SGNAEYQVSG ILDFGDMSYG YYVFEVAITI MYMMIESKSP IQVGGHVLAG FESITPLTAV
EKGALFLLVC SRFCQSLVMA AYSCQLYPEN KDYLMVTAKT GWKHLQQMFD MGQKAVEEIW
FETAKSYESG ISM*

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

101 / 101

Last intron/exon boundary

761

Theoretical NMD boundary in CDS

610

Length of CDS

1122

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

6118

Chromosomal position

78513681

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:

15:78513681T>C_2_ENST00000569878

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Homozygous in gnomAD
Known as potential disease variant: ClinVar ID 3336640 (likely pathogenic)

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to ClinVar,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr15:78513681T>C (GRCh38)

Gene symbol

HYKK

Gene constraints

LOEUF: 0.95, LOF (oe): 0.62, misssense (oe): 0.82, synonymous (oe): 0.96 ? (gnomAD)

Ensembl transcript ID

ENST00000569878.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.337+256T>C
g.6118T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Chronic obstructive pulmonary disease

likely pathogenic

ClinVar OMIM

Variant DBs

dbSNP ID	rs8034191
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	6412	28593	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.197	0.001
	0.649	0.002
(flanking)	0.437	0.001

?

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

15

Strand

1

Original gDNA sequence snippet

TGTGGTATAAGTTTTCTGTTTAGAAAGGCCCTGACAGATAG

Altered gDNA sequence snippet

TGTGGTATAAGTTTTCTGTTCAGAAAGGCCCTGACAGATAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSSGNYQQSE ALSKPTFSEE QASALVESVF GLKVSKVRPL PSYDDQNFHV YVSKTKDGPT
EYVLKISNTK ASKNPDLIEV QNHIIMFLKA AGFPTASVCH TKGDNTASLV SVDSGSEIKS
YLVRLLTYLP GRPIAELPVS PQLLYEIGKL AAKLDKTLQR FHHPKLSSLH RENFIWNLKN
VPLLEKYLYA LGQNRNREIV EHVIHLFKEE VMTKLSHFRE CINHGDLNDH NILIESSKSA
SGNAEYQVSG ILDFGDMSYG YYVFEVAITI MYMMIESKSP IQVGGHVLAG FESITPLTAV
EKGALFLLVC SRFCQSLVMA AYSCQLYPEN KDYLMVTAKT GWKHLQQMFD MGQKAVEEIW
FETAKSYESG ISM*

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

1 / 1

Last intron/exon boundary

661

Theoretical NMD boundary in CDS

610

Length of CDS

1122

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

6118

Chromosomal position

78513681

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:

15:78513681T>C_3_ENST00000566332

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Homozygous in gnomAD
Known as potential disease variant: ClinVar ID 3336640 (likely pathogenic)

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to ClinVar,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr15:78513681T>C (GRCh38)

Gene symbol

HYKK

Gene constraints

LOEUF: 1.00, LOF (oe): 0.56, misssense (oe): 0.88, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000566332.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.337+256T>C
g.6118T>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Chronic obstructive pulmonary disease

likely pathogenic

ClinVar OMIM

Variant DBs

dbSNP ID	rs8034191
gnomAD	homozygous (C/C)	heterozygous	allele carriers
	6412	28593	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.197	0.001
	0.649	0.002
(flanking)	0.437	0.001

?

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

15

Strand

1

Original gDNA sequence snippet

TGTGGTATAAGTTTTCTGTTTAGAAAGGCCCTGACAGATAG

Altered gDNA sequence snippet

TGTGGTATAAGTTTTCTGTTCAGAAAGGCCCTGACAGATAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MSSGNYQQSE ALSKPTFSEE QASALVESVF GLKVSKVRPL PSYDDQNFHV YVSKTKDGPT
EYVLKISNTK ASKNPDLIEV QNHIIMFLKA AGFPTASVCH TKGDNTASLV SVDSGSEIKS
YLVRLLTYLP GRPIAELPVS PQLLYEIGKL AAKLDKTLQR FHHPKLSSLH RENFIWNLKN
VPLLEKYLYA LGQNRNREIV EHVIHLFKEE VMTKLSHFRE CEYSPN*

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

61 / 61

Last intron/exon boundary

537

Theoretical NMD boundary in CDS

426

Length of CDS

681

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

6118

Chromosomal position

78513681

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