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: ENST00000342056
Querying Taster for transcript #2: ENST00000628967
Querying Taster for transcript #3: ENST00000370398
Querying Taster for transcript #4: ENST00000370392
Querying Taster for transcript #5: ENST00000629977
Querying Taster for transcript #6: ENST00000355194
MT speed 0.11 s - this script 2.493685 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000342056	KCNQ5	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000628967	KCNQ5	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000370398(MANE Select)	KCNQ5	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000370392	KCNQ5	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000629977	KCNQ5	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000355194	KCNQ5	Benign	0\|200	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD

MutationT@ster 2025

Variant:

6:72933566C>A_1_ENST00000342056

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:72933566C>A (GRCh38)

Gene symbol

KCNQ5

Gene constraints

LOEUF: 0.42, LOF (oe): 0.29, misssense (oe): 0.72, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000342056.6

Genbank transcript ID

NM_001160133 (by similarity), NM_001160132 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.399-70342C>A
g.311775C>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	rs7744813
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.795	0.437
	0.124	0.433
(flanking)	1.27	0.486

?

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

6

Strand

1

Original gDNA sequence snippet

GTCATCTGTCACAGGTAATTCATTCTACTTGATTGTTTCAA

Altered gDNA sequence snippet

GTCATCTGTCACAGGTAATTAATTCTACTTGATTGTTTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPRHHAGGEE GGAAGLWVKS GAAAAAAGGG RLGSGMKDVE SGRGRVLLNS AAARGDGLLL
LGTRAATLGG GGGGLRESRR GKQGARMSLL GKPLSYTSSQ SCRRNVKYRR VQNYLYNVLE
RPRGWAFIYH AFVFLLVFGC LILSVFSTIP EHTKLASSCL LILEFVMIVV FGLEFIIRIW
SAGCCCRYRG WQGRLRFARK PFCVIDTIVL IASIAVVSAK TQGNIFATSA LRSLRFLQIL
RMVRMDRRGG TWKLLGSVVY AHSKELITAW YIGFLVLIFS SFLVYLVEKD ANKEFSTYAD
ALWWGTITLT TIGYGDKTPL TWLGRLLSAG FALLGISFFA LPAGILGSGF ALKVQEQHRQ
KHFEKRRNPA ANLIQCVWRS YAADEKSVSI ATWKPHLKAL HTCSPTKKEQ GEASSSKFCS
NKQKLFRMYT SRKQSQKLSF KERVRMASPR GQSIKSRQAS VGDRRSPSTD ITAEGSPTKV
QKSWSFNDRT RFRPSLRLKS SQPKPVIDAD TALGTDDVYD EKGCQCDVSV EDLTPPLKTV
IRAIRIMKFH VAKRKFKETL RPYDVKDVIE QYSAGHLDML CRIKSLQTRV DQILGKGQIT
SDKKSREKIT AEHETTDDLS MLGRVVKVEK QVQSIESKLD CLLDIYQQVL RKGSASALAL
ASFQIPPFEC EQTSDYQSPV DSKDLSGSAQ NSGCLSRSTS ANISRGLQFI LTPNEFSAQT
FYALSPTMHS QATQVPISQS DGSAVAATNT IANQINTAPK PAAPTTLQIP PPLPAIKHLP
RPETLHPNPA GLQESISDVT TCLVASKENV QVAQSNLTKD RSMRKSFDMG GETLLSVCPM
VPKDLGKSLS VQNLIRSTEE LNIQLSGSES SGSRGSQDFY PKWRESKLFI TDEEVGPEET
ETDTFDAAPQ PAREAAFASD SLRTGRSRSS QSICKAGEST DALSLPHVKL K*

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

399 / 399

Last intron/exon boundary

2291

Theoretical NMD boundary in CDS

1842

Length of CDS

2856

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

311775

Chromosomal position

72933566

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:

6:72933566C>A_2_ENST00000628967

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:72933566C>A (GRCh38)

Gene symbol

KCNQ5

Gene constraints

LOEUF: 0.46, LOF (oe): 0.31, misssense (oe): 0.74, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000628967.2

Genbank transcript ID

NM_001160134 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.399-70342C>A
g.311775C>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	rs7744813
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.795	0.437
	0.124	0.433
(flanking)	1.27	0.486

?

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

6

Strand

1

Original gDNA sequence snippet

GTCATCTGTCACAGGTAATTCATTCTACTTGATTGTTTCAA

Altered gDNA sequence snippet

GTCATCTGTCACAGGTAATTAATTCTACTTGATTGTTTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPRHHAGGEE GGAAGLWVKS GAAAAAAGGG RLGSGMKDVE SGRGRVLLNS AAARGDGLLL
LGTRAATLGG GGGGLRESRR GKQGARMSLL GKPLSYTSSQ SCRRNVKYRR VQNYLYNVLE
RPRGWAFIYH AFVFLLVFGC LILSVFSTIP EHTKLASSCL LILEFVMIVV FGLEFIIRIW
SAGCCCRYRG WQGRLRFARK PFCVIDTIVL IASIAVVSAK TQGNIFATSA LRSLRFLQIL
RMVRMDRRGG TWKLLGSVVY AHSKELITAW YIGFLVLIFS SFLVYLVEKD ANKEFSTYAD
ALWWGTITLT TIGYGDKTPL TWLGRLLSAG FALLGISFFA LPAGILGSGF ALKVQEQHRQ
KHFEKRRNPA ANLIQCVWRS YAADEKSVSI ATWKPHLKAL HTCSPTKKEQ GEASSRIMKF
HVAKRKFKET LRPYDVKDVI EQYSAGHLDM LCRIKSLQTR VDQILGKGQI TSDKKSREKI
TAEHETTDDL SMLGRVVKVE KQVQSIESKL DCLLDIYQQV LRKGSASALA LASFQIPPFE
CEQTSDYQSP VDSKDLSGSA QNSGCLSRST SANISRGLQF ILTPNEFSAQ TFYALSPTMH
SQATQVPISQ SDGSAVAATN TIANQINTAP KPAAPTTLQI PPPLPAIKHL PRPETLHPNP
AGLQESISDV TTCLVASKEN VQVAQSNLTK DRSMRKSFDM GGETLLSVCP MVPKDLGKSL
SVQNLIRSTE ELNIQLSGSE SSGSRGSQDF YPKWRESKLF ITDEEVGPEE TETDTFDAAP
QPAREAAFAS DSLRTGRSRS SQSICKAGES TDALSLPHVK LK*

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

348 / 348

Last intron/exon boundary

1853

Theoretical NMD boundary in CDS

1455

Length of CDS

2469

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

311775

Chromosomal position

72933566

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:

6:72933566C>A_3_ENST00000370398

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:72933566C>A (GRCh38)

Gene symbol

KCNQ5

Gene constraints

LOEUF: 0.42, LOF (oe): 0.29, misssense (oe): 0.72, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000370398.6

Genbank transcript ID

NM_019842 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.399-70342C>A
g.311775C>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	rs7744813
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.795	0.437
	0.124	0.433
(flanking)	1.27	0.486

?

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

6

Strand

1

Original gDNA sequence snippet

GTCATCTGTCACAGGTAATTCATTCTACTTGATTGTTTCAA

Altered gDNA sequence snippet

GTCATCTGTCACAGGTAATTAATTCTACTTGATTGTTTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPRHHAGGEE GGAAGLWVKS GAAAAAAGGG RLGSGMKDVE SGRGRVLLNS AAARGDGLLL
LGTRAATLGG GGGGLRESRR GKQGARMSLL GKPLSYTSSQ SCRRNVKYRR VQNYLYNVLE
RPRGWAFIYH AFVFLLVFGC LILSVFSTIP EHTKLASSCL LILEFVMIVV FGLEFIIRIW
SAGCCCRYRG WQGRLRFARK PFCVIDTIVL IASIAVVSAK TQGNIFATSA LRSLRFLQIL
RMVRMDRRGG TWKLLGSVVY AHSKELITAW YIGFLVLIFS SFLVYLVEKD ANKEFSTYAD
ALWWGTITLT TIGYGDKTPL TWLGRLLSAG FALLGISFFA LPAGILGSGF ALKVQEQHRQ
KHFEKRRNPA ANLIQCVWRS YAADEKSVSI ATWKPHLKAL HTCSPTKKEQ GEASSSQKLS
FKERVRMASP RGQSIKSRQA SVGDRRSPST DITAEGSPTK VQKSWSFNDR TRFRPSLRLK
SSQPKPVIDA DTALGTDDVY DEKGCQCDVS VEDLTPPLKT VIRAIRIMKF HVAKRKFKET
LRPYDVKDVI EQYSAGHLDM LCRIKSLQTR VDQILGKGQI TSDKKSREKI TAEHETTDDL
SMLGRVVKVE KQVQSIESKL DCLLDIYQQV LRKGSASALA LASFQIPPFE CEQTSDYQSP
VDSKDLSGSA QNSGCLSRST SANISRGLQF ILTPNEFSAQ TFYALSPTMH SQATQVPISQ
SDGSAVAATN TIANQINTAP KPAAPTTLQI PPPLPAIKHL PRPETLHPNP AGLQESISDV
TTCLVASKEN VQVAQSNLTK DRSMRKSFDM GGETLLSVCP MVPKDLGKSL SVQNLIRSTE
ELNIQLSGSE SSGSRGSQDF YPKWRESKLF ITDEEVGPEE TETDTFDAAP QPAREAAFAS
DSLRTGRSRS SQSICKAGES TDALSLPHVK LK*

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

127 / 127

Last intron/exon boundary

1962

Theoretical NMD boundary in CDS

1785

Length of CDS

2799

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

311775

Chromosomal position

72933566

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:

6:72933566C>A_4_ENST00000370392

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:72933566C>A (GRCh38)

Gene symbol

KCNQ5

Gene constraints

LOEUF: 0.45, LOF (oe): 0.25, misssense (oe): 0.57, synonymous (oe): 1.06 ? (gnomAD)

Ensembl transcript ID

ENST00000370392.5

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.399-70342C>A
g.311775C>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	rs7744813
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.795	0.437
	0.124	0.433
(flanking)	1.27	0.486

?

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

6

Strand

1

Original gDNA sequence snippet

GTCATCTGTCACAGGTAATTCATTCTACTTGATTGTTTCAA

Altered gDNA sequence snippet

GTCATCTGTCACAGGTAATTAATTCTACTTGATTGTTTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPRHHAGGEE GGAAGLWVKS GAAAAAAGGG RLGSGMKDVE SGRGRVLLNS AAARGDGLLL
LGTRAATLGG GGGGLRESRR GKQGARMSLL GKPLSYTSSQ SCRRNVKYRR VQNYLYNVLE
RPRGWAFIYH AFVFLLVFGC LILSVFSTIP EHTKLASSCL LILEFVMIVV FGLEFIIRIW
SAGCCCRYRG WQGRLRFARK PFCVIDTIVL IASIAVVSAK TQGNIFATSA LRSLRFLQIL
RMVRMDRRGG TWKLLGSVVY AHSKELITAW YIGFLVLIFS SFLVYLVEKD ANKEFSTYAD
ALWWGTITLT TIGYGDKTPL TWLGRLLSAG FALLGISFFA LPAGILGSGF ALKVQEQHRQ
KHFEKRRNPA ANLIQCVWRS YAADEKSVSI ATWKPHLKAL HTCSPTKKEQ GEASSRFVIS
LLLHVCL*

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

85 / 85

Last intron/exon boundary

1304

Theoretical NMD boundary in CDS

1169

Length of CDS

1284

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

311775

Chromosomal position

72933566

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:

6:72933566C>A_5_ENST00000629977

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:72933566C>A (GRCh38)

Gene symbol

KCNQ5

Gene constraints

LOEUF: 0.42, LOF (oe): 0.29, misssense (oe): 0.72, synonymous (oe): 1.03 ? (gnomAD)

Ensembl transcript ID

ENST00000629977.2

Genbank transcript ID

NM_001160130 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.399-70342C>A
g.311775C>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	rs7744813
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.795	0.437
	0.124	0.433
(flanking)	1.27	0.486

?

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

6

Strand

1

Original gDNA sequence snippet

GTCATCTGTCACAGGTAATTCATTCTACTTGATTGTTTCAA

Altered gDNA sequence snippet

GTCATCTGTCACAGGTAATTAATTCTACTTGATTGTTTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPRHHAGGEE GGAAGLWVKS GAAAAAAGGG RLGSGMKDVE SGRGRVLLNS AAARGDGLLL
LGTRAATLGG GGGGLRESRR GKQGARMSLL GKPLSYTSSQ SCRRNVKYRR VQNYLYNVLE
RPRGWAFIYH AFVFLLVFGC LILSVFSTIP EHTKLASSCL LILEFVMIVV FGLEFIIRIW
SAGCCCRYRG WQGRLRFARK PFCVIDTIVL IASIAVVSAK TQGNIFATSA LRSLRFLQIL
RMVRMDRRGG TWKLLGSVVY AHSKELITAW YIGFLVLIFS SFLVYLVEKD ANKEFSTYAD
ALWWGTITLT TIGYGDKTPL TWLGRLLSAG FALLGISFFA LPAGILGSGF ALKVQEQHRQ
KHFEKRRNPA ANLIQCVWRS YAADEKSVSI ATWKPHLKAL HTCSPTNQKL SFKERVRMAS
PRGQSIKSRQ ASVGDRRSPS TDITAEGSPT KVQKSWSFND RTRFRPSLRL KSSQPKPVID
ADTALGTDDV YDEKGCQCDV SVEDLTPPLK TVIRAIRIMK FHVAKRKFKE TLRPYDVKDV
IEQYSAGHLD MLCRIKSLQT RVDQILGKGQ ITSDKKSREK ITAEHETTDD LSMLGRVVKV
EKQVQSIESK LDCLLDIYQQ VLRKGSASAL ALASFQIPPF ECEQTSDYQS PVDSKDLSGS
AQNSGCLSRS TSANISRGLQ FILTPNEFSA QTFYALSPTM HSQATQVPIS QSDGSAVAAT
NTIANQINTA PKPAAPTTLQ IPPPLPAIKH LPRPETLHPN PAGLQESISD VTTCLVASKE
NVQVAQSNLT KDRSMRKSFD MGGETLLSVC PMVPKDLGKS LSVQNLIRST EELNIQLSGS
ESSGSRGSQD FYPKWRESKL FITDEEVGPE ETETDTFDAA PQPAREAAFA SDSLRTGRSR
SSQSICKAGE STDALSLPHV KLK*

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

19 / 19

Last intron/exon boundary

1827

Theoretical NMD boundary in CDS

1758

Length of CDS

2772

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

311775

Chromosomal position

72933566

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:

6:72933566C>A_6_ENST00000355194

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:72933566C>A (GRCh38)

Gene symbol

KCNQ5

Gene constraints

LOEUF: 0.42, LOF (oe): 0.29, misssense (oe): 0.72, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000355194.9

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.399-70342C>A
g.311775C>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	rs7744813
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	>32000	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	2.795	0.437
	0.124	0.433
(flanking)	1.27	0.486

?

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

6

Strand

1

Original gDNA sequence snippet

GTCATCTGTCACAGGTAATTCATTCTACTTGATTGTTTCAA

Altered gDNA sequence snippet

GTCATCTGTCACAGGTAATTAATTCTACTTGATTGTTTCAA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPRHHAGGEE GGAAGLWVKS GAAAAAAGGG RLGSGMKDVE SGRGRVLLNS AAARGDGLLL
LGTRAATLGG GGGGLRESRR GKQGARMSLL GKPLSYTSSQ SCRRNVKYRR VQNYLYNVLE
RPRGWAFIYH AFVFLLVFGC LILSVFSTIP EHTKLASSCL LILEFVMIVV FGLEFIIRIW
SAGCCCRYRG WQGRLRFARK PFCVIDTIVL IASIAVVSAK TQGNIFATSA LRSLRFLQIL
RMVRMDRRGG TWKLLGSVVY AHSKELITAW YIGFLVLIFS SFLVYLVEKD ANKEFSTYAD
ALWWGTITLT TIGYGDKTPL TWLGRLLSAG FALLGISFFA LPAGILGSGF ALKVQEQHRQ
KHFEKRRNPA ANLIQCVWRS YAADEKSVSI ATWKPHLKAL HTCSPTKKEQ GEASSSWGQW
TLRQKLSFKE RVRMASPRGQ SIKSRQASVG DRRSPSTDIT AEGSPTKVQK SWSFNDRTRF
RPSLRLKSSQ PKPVIDADTA LGTDDVYDEK GCQCDVSVED LTPPLKTVIR AIRIMKFHVA
KRKFKETLRP YDVKDVIEQY SAGHLDMLCR IKSLQTRVDQ ILGKGQITSD KKSREKITAE
HETTDDLSML GRVVKVEKQV QSIESKLDCL LDIYQQVLRK GSASALALAS FQIPPFECEQ
TSDYQSPVDS KDLSGSAQNS GCLSRSTSAN ISRGLQFILT PNEFSAQTFY ALSPTMHSQA
TQVPISQSDG SAVAATNTIA NQINTAPKPA APTTLQIPPP LPAIKHLPRP ETLHPNPAGL
QESISDVTTC LVASKENVQV AQSNLTKDRS MRKSFDMGGE TLLSVCPMVP KDLGKSLSVQ
NLIRSTEELN IQLSGSESSG SRGSQDFYPK WRESKLFITD EEVGPEETET DTFDAAPQPA
REAAFASDSL RTGRSRSSQS ICKAGESTDA LSLPHVKLK*

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

1857

Theoretical NMD boundary in CDS

1806

Length of CDS

2820

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

311775

Chromosomal position

72933566

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