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: ENST00000353147
Querying Taster for transcript #2: ENST00000397022
Querying Taster for transcript #3: ENST00000352392
Querying Taster for transcript #4: ENST00000349999
Querying Taster for transcript #5: ENST00000317896
Querying Taster for transcript #6: ENST00000470149
Querying Taster for transcript #7: ENST00000336625
Querying Taster for transcript #8: ENST00000488199
Querying Taster for transcript #9: ENST00000714170
Querying Taster for transcript #10: ENST00000714164
Querying Taster for transcript #11: ENST00000714172
Querying Taster for transcript #12: ENST00000714174
Querying Taster for transcript #13: ENST00000461397
Querying Taster for transcript #14: ENST00000357618
Querying Taster for transcript #15: ENST00000485729
Querying Taster for transcript #16: ENST00000309234
MT speed 3.03 s - this script 5.547387 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000488199	HFE	Benign	29\|171	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000349999	HFE	Benign	31\|169	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000714164	HFE	Benign	34\|166	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000352392	HFE	Benign	43\|157	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000353147	HFE	Benign	46\|154	without_aae	No	Single base exchange	N/A	Homozygous in gnomAD
ENST00000714170	HFE	Benign	66\|34	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000714172	HFE	Benign	66\|34	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000714174	HFE	Benign	66\|34	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000397022	HFE	Benign	85\|15	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000317896	HFE	Benign	87\|13	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000336625	HFE	Benign	87\|13	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000461397	HFE	Benign	87\|13	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000309234	HFE	Benign	87\|13	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000485729	HFE	Benign	89\|11	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD
ENST00000357618(MANE Select)	HFE	Benign	89\|11	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD Protein features (might be) affected
ENST00000470149	HFE	Benign	90\|10	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Homozygous in gnomAD

MutationT@ster 2025

Variant:

6:26090951C>G_8_ENST00000488199

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 29|171 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.05, LOF (oe): 0.74, misssense (oe): 0.82, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000488199.5

Genbank transcript ID

NM_139008 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.77-363C>G
g.3726C>G

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	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLQSHTL QVILGCEMQE DNSTEGYWKY GYDGQDHLEF
CPDTLDWRAA EPRAWPTKLE WERHKIRARQ NRAYLERDCP AQLQQLLELG RGVLDQQVTT
LRCRALNYYP QNITMKWLKD KQPMDAKEFE PKDVLPNGDG TYQGWITLAV PPGEEQRYTC
QVEHPGLDQP LIVIWEPSPS GTLVIGVISG IAVFVVILFI GILFIILRKR QGSRGAMGHY
VLAERE*

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

37 / 37

Last intron/exon boundary

736

Theoretical NMD boundary in CDS

649

Length of CDS

741

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3726

Chromosomal position

26090951

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:

6:26090951C>G_4_ENST00000349999

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 31|169 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.04, LOF (oe): 0.74, misssense (oe): 0.82, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000349999.8

Genbank transcript ID

NM_139007 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.77-363C>G
g.3726C>G

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	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLQSHTL QVILGCEMQE DNSTEGYWKY GYDGQDHLEF
CPDTLDWRAA EPRAWPTKLE WERHKIRARQ NRAYLERDCP AQLQQLLELG RGVLDQQVPP
LVKVTHHVTS SVTTLRCRAL NYYPQNITMK WLKDKQPMDA KEFEPKDVLP NGDGTYQGWI
TLAVPPGEEQ RYTCQVEHPG LDQPLIVIWE PSPSGTLVIG VISGIAVFVV ILFIGILFII
LRKRQGSRGA MGHYVLAERE *

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

161 / 161

Last intron/exon boundary

902

Theoretical NMD boundary in CDS

691

Length of CDS

783

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3726

Chromosomal position

26090951

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:

6:26090951C>G_10_ENST00000714164

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 34|166 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

no data

Ensembl transcript ID

ENST00000714164.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.77-3235C>G
g.3726C>G

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	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRGAMG HYVLAERE*

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

18 / 18

Last intron/exon boundary

93

Theoretical NMD boundary in CDS

25

Length of CDS

117

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3726

Chromosomal position

26090951

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:

6:26090951C>G_3_ENST00000352392

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 43|157 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.26, LOF (oe): 0.60, misssense (oe): 0.89, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000352392.8

Genbank transcript ID

NM_139011 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.77-2168C>G
g.3726C>G

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	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLQPSPS GTLVIGVISG IAVFVVILFI GILFIILRKR
QGSRGAMGHY VLAERE*

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

161 / 161

Last intron/exon boundary

350

Theoretical NMD boundary in CDS

139

Length of CDS

231

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3726

Chromosomal position

26090951

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:

6:26090951C>G_1_ENST00000353147

Back to summary table

Prediction:

BenignPermalink

Summary:

Homozygous in gnomAD

Model: without_aae
Tree vote: 46|154 (del | benign) ?
Automatic classification due to gnomAD

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.19, LOF (oe): 0.76, misssense (oe): 0.89, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000353147.9

Genbank transcript ID

NM_139010 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.77-1734C>G
g.3726C>G

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	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLLPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL
KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERE*

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

161 / 161

Last intron/exon boundary

626

Theoretical NMD boundary in CDS

415

Length of CDS

507

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3726

Chromosomal position

26090951

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:

6:26090951C>G_9_ENST00000714170

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 66|34 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

no data

Ensembl transcript ID

ENST00000714170.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.85C>G
g.3726C>G

AA changes

AAE:	H29D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		29	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	29	Y	V	D	D	Q	L	F	V	F	Y	D	D	E	S	R	R	V	E	P	R	T	P	W
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)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGASEQDLGL SLFEALGYVD DQLFVFYDHE SRRVEPRTPW VSSRISSQMW LQLSQSLKGW
DHMFTVDFWT IMENHNHSKE SHTLQVILGC EMQEDNSTEG YWKYGYDGQD HLEFCPDTLD
WRAAEPRAWP TKLEWERHKI RARQNRAYLE RDCPAQLQQL LELGRGVLDQ QVPPLVKVTH
HVTSSVTTLR CRALNYYPQN ITMKWLKDKQ PMDAKEFEPK DVLPNGDGTY QGWITLAVPP
GEEQRYTCQV EHPGLDQPLI VIWEPSPSGT LVIGVISGIA VFVVILFIGI LFIILRKRQG
SRGAMGHYVL AERE*

Mutated AA sequence

MGASEQDLGL SLFEALGYVD DQLFVFYDDE SRRVEPRTPW VSSRISSQMW LQLSQSLKGW
DHMFTVDFWT IMENHNHSKE SHTLQVILGC EMQEDNSTEG YWKYGYDGQD HLEFCPDTLD
WRAAEPRAWP TKLEWERHKI RARQNRAYLE RDCPAQLQQL LELGRGVLDQ QVPPLVKVTH
HVTSSVTTLR CRALNYYPQN ITMKWLKDKQ PMDAKEFEPK DVLPNGDGTY QGWITLAVPP
GEEQRYTCQV EHPGLDQPLI VIWEPSPSGT LVIGVISGIA VFVVILFIGI LFIILRKRQG
SRGAMGHYVL AERE*

Position of stopcodon in wt / mu CDS

945 / 945

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

315 / 315

Position of stopcodon in wt / mu cDNA

1139 / 1139

Position of start ATG in wt / mu cDNA

195 / 195

Last intron/exon boundary

1098

Theoretical NMD boundary in CDS

853

Length of CDS

945

Coding sequence (CDS) position

85

cDNA position

279

gDNA position

3726

Chromosomal position

26090951

Speed

0.34 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:

6:26090951C>G_11_ENST00000714172

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 66|34 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

no data

Ensembl transcript ID

ENST00000714172.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.187C>G
g.3726C>G

AA changes

AAE:	H63D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		63	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	63										Y	D	D	E	S	R	R	V	E	P	R	T	P	W
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)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKVPPLVKV
THHVTSSVTT LRCRALNYYP QNITMKWLKD KQPMDAKEFE PKDVLPNGDG TYQGWITLAV
PPGEEQRYTC QVEHPGLDQP LIVIWEPSPS GTLVIGVISG IAVFVVILFI GILFIILRKR
QGSSF*

Mutated AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDDESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKVPPLVKV
THHVTSSVTT LRCRALNYYP QNITMKWLKD KQPMDAKEFE PKDVLPNGDG TYQGWITLAV
PPGEEQRYTC QVEHPGLDQP LIVIWEPSPS GTLVIGVISG IAVFVVILFI GILFIILRKR
QGSSF*

Position of stopcodon in wt / mu CDS

738 / 738

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

246 / 246

Position of stopcodon in wt / mu cDNA

754 / 754

Position of start ATG in wt / mu cDNA

17 / 17

Last intron/exon boundary

746

Theoretical NMD boundary in CDS

679

Length of CDS

738

Coding sequence (CDS) position

187

cDNA position

203

gDNA position

3726

Chromosomal position

26090951

Speed

0.12 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:

6:26090951C>G_12_ENST00000714174

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 66|34 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

no data

Ensembl transcript ID

ENST00000714174.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.187C>G
g.3726C>G

AA changes

AAE:	H63D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		63	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	63										Y	D	D	E	S	R	R	V	E	P	R	T	P	W
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)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKGMWRGGL
TFLRLSELFI FSCILKETAG SLRALTVWHP SHWSHQWNCC FCRHLVHWNF VHNIKEEAGF
KRSHGALRLS *

Mutated AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDDESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKGMWRGGL
TFLRLSELFI FSCILKETAG SLRALTVWHP SHWSHQWNCC FCRHLVHWNF VHNIKEEAGF
KRSHGALRLS *

Position of stopcodon in wt / mu CDS

573 / 573

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

191 / 191

Position of stopcodon in wt / mu cDNA

585 / 585

Position of start ATG in wt / mu cDNA

13 / 13

Last intron/exon boundary

554

Theoretical NMD boundary in CDS

491

Length of CDS

573

Coding sequence (CDS) position

187

cDNA position

199

gDNA position

3726

Chromosomal position

26090951

Speed

0.34 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:

6:26090951C>G_2_ENST00000397022

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 85|15 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.05, LOF (oe): 0.79, misssense (oe): 0.81, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000397022.7

Genbank transcript ID

NM_139009 (by similarity)

UniProt / AlphaMissense peptide

HFE_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.118C>G
g.3726C>G

AA changes

AAE:	H40D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		40	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	40	Y	V	D	D	Q	L	F	V	F	Y	D	D	E	S	R	R	V	E	P	R	T	P	W
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
23	114	REGION		lost
23	306	TOPO_DOM	Extracellular	lost
23	348	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLPLGYV DDQLFVFYDH ESRRVEPRTP WVSSRISSQM
WLQLSQSLKG WDHMFTVDFW TIMENHNHSK ESHTLQVILG CEMQEDNSTE GYWKYGYDGQ
DHLEFCPDTL DWRAAEPRAW PTKLEWERHK IRARQNRAYL ERDCPAQLQQ LLELGRGVLD
QQVPPLVKVT HHVTSSVTTL RCRALNYYPQ NITMKWLKDK QPMDAKEFEP KDVLPNGDGT
YQGWITLAVP PGEEQRYTCQ VEHPGLDQPL IVIWEPSPSG TLVIGVISGI AVFVVILFIG
ILFIILRKRQ GSRGAMGHYV LAERE*

Mutated AA sequence

MGPRARPALL LLMLLQTAVL QGRLLPLGYV DDQLFVFYDD ESRRVEPRTP WVSSRISSQM
WLQLSQSLKG WDHMFTVDFW TIMENHNHSK ESHTLQVILG CEMQEDNSTE GYWKYGYDGQ
DHLEFCPDTL DWRAAEPRAW PTKLEWERHK IRARQNRAYL ERDCPAQLQQ LLELGRGVLD
QQVPPLVKVT HHVTSSVTTL RCRALNYYPQ NITMKWLKDK QPMDAKEFEP KDVLPNGDGT
YQGWITLAVP PGEEQRYTCQ VEHPGLDQPL IVIWEPSPSG TLVIGVISGI AVFVVILFIG
ILFIILRKRQ GSRGAMGHYV LAERE*

Position of stopcodon in wt / mu CDS

978 / 978

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

326 / 326

Position of stopcodon in wt / mu cDNA

1138 / 1138

Position of start ATG in wt / mu cDNA

161 / 161

Last intron/exon boundary

1097

Theoretical NMD boundary in CDS

886

Length of CDS

978

Coding sequence (CDS) position

118

cDNA position

278

gDNA position

3726

Chromosomal position

26090951

Speed

0.37 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:

6:26090951C>G_5_ENST00000317896

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 87|13 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.12, LOF (oe): 0.80, misssense (oe): 0.88, synonymous (oe): 0.92 ? (gnomAD)

Ensembl transcript ID

ENST00000317896.11

Genbank transcript ID

NM_139004 (by similarity)

UniProt / AlphaMissense peptide

HFE_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.187C>G
g.3726C>G

AA changes

AAE:	H63D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		63	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	63										Y	D	D	E	S	R	R	V	E	P	R	T	P	W
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
23	114	REGION		lost
23	306	TOPO_DOM	Extracellular	lost
23	348	CHAIN		lost
56	65	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKVPPLVKV
THHVTSSVTT LRCRALNYYP QNITMKWLKD KQPMDAKEFE PKDVLPNGDG TYQGWITLAV
PPGEEQRYTC QVEHPGLDQP LIVIWEPSPS GTLVIGVISG IAVFVVILFI GILFIILRKR
QGSRGAMGHY VLAERE*

Mutated AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDDESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKVPPLVKV
THHVTSSVTT LRCRALNYYP QNITMKWLKD KQPMDAKEFE PKDVLPNGDG TYQGWITLAV
PPGEEQRYTC QVEHPGLDQP LIVIWEPSPS GTLVIGVISG IAVFVVILFI GILFIILRKR
QGSRGAMGHY VLAERE*

Position of stopcodon in wt / mu CDS

771 / 771

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

257 / 257

Position of stopcodon in wt / mu cDNA

931 / 931

Position of start ATG in wt / mu cDNA

161 / 161

Last intron/exon boundary

890

Theoretical NMD boundary in CDS

679

Length of CDS

771

Coding sequence (CDS) position

187

cDNA position

347

gDNA position

3726

Chromosomal position

26090951

Speed

0.12 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:

6:26090951C>G_7_ENST00000336625

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 87|13 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.13, LOF (oe): 0.80, misssense (oe): 0.88, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000336625.12

Genbank transcript ID

NM_139003 (by similarity)

UniProt / AlphaMissense peptide

HFE_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.187C>G
g.3726C>G

AA changes

AAE:	H63D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		63	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	63										Y	D	D	E	S	R	R	V	E	P	R	T	P	W
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
23	114	REGION		lost
23	306	TOPO_DOM	Extracellular	lost
23	348	CHAIN		lost
56	65	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKVTTLRCR
ALNYYPQNIT MKWLKDKQPM DAKEFEPKDV LPNGDGTYQG WITLAVPPGE EQRYTCQVEH
PGLDQPLIVI WEPSPSGTLV IGVISGIAVF VVILFIGILF IILRKRQGSR GAMGHYVLAE
RE*

Mutated AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDDESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKVTTLRCR
ALNYYPQNIT MKWLKDKQPM DAKEFEPKDV LPNGDGTYQG WITLAVPPGE EQRYTCQVEH
PGLDQPLIVI WEPSPSGTLV IGVISGIAVF VVILFIGILF IILRKRQGSR GAMGHYVLAE
RE*

Position of stopcodon in wt / mu CDS

729 / 729

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

243 / 243

Position of stopcodon in wt / mu cDNA

773 / 773

Position of start ATG in wt / mu cDNA

45 / 45

Last intron/exon boundary

732

Theoretical NMD boundary in CDS

637

Length of CDS

729

Coding sequence (CDS) position

187

cDNA position

231

gDNA position

3726

Chromosomal position

26090951

Speed

0.35 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:

6:26090951C>G_13_ENST00000461397

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 87|13 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.04, LOF (oe): 0.78, misssense (oe): 0.82, synonymous (oe): 0.90 ? (gnomAD)

Ensembl transcript ID

ENST00000461397.6

Genbank transcript ID

NM_139006 (by similarity)

UniProt / AlphaMissense peptide

HFE_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.187C>G
g.3726C>G

AA changes

AAE:	H63D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		63	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	63										Y	D	D	E	S	R	R	V	E	P	R	T	P	W
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
23	114	REGION		lost
23	306	TOPO_DOM	Extracellular	lost
23	348	CHAIN		lost
56	65	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
AYLERDCPAQ LQQLLELGRG VLDQQVTTLR CRALNYYPQN ITMKWLKDKQ PMDAKEFEPK
DVLPNGDGTY QGWITLAVPP GEEQRYTCQV EHPGLDQPLI VIWEPSPSGT LVIGVISGIA
VFVVILFIGI LFIILRKRQG SRGAMGHYVL AERE*

Mutated AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDDESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
AYLERDCPAQ LQQLLELGRG VLDQQVTTLR CRALNYYPQN ITMKWLKDKQ PMDAKEFEPK
DVLPNGDGTY QGWITLAVPP GEEQRYTCQV EHPGLDQPLI VIWEPSPSGT LVIGVISGIA
VFVVILFIGI LFIILRKRQG SRGAMGHYVL AERE*

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

1127 / 1127

Position of start ATG in wt / mu cDNA

123 / 123

Last intron/exon boundary

1086

Theoretical NMD boundary in CDS

913

Length of CDS

1005

Coding sequence (CDS) position

187

cDNA position

309

gDNA position

3726

Chromosomal position

26090951

Speed

0.12 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:

6:26090951C>G_16_ENST00000309234

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 87|13 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.04, LOF (oe): 0.78, misssense (oe): 0.83, synonymous (oe): 0.91 ? (gnomAD)

Ensembl transcript ID

ENST00000309234.11

Genbank transcript ID

NM_001300749 (by similarity), NM_001406752 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.187C>G
g.3726C>G

AA changes

AAE:	H63D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		63	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	63										Y	D	D	E	S	R	R	V	E	P	R	T	P	W
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)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
AYLERDCPAQ LQQLLELGRG VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL
KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSSF*

Mutated AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDDESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
AYLERDCPAQ LQQLLELGRG VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL
KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSSF*

Position of stopcodon in wt / mu CDS

1014 / 1014

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

338 / 338

Position of stopcodon in wt / mu cDNA

1018 / 1018

Position of start ATG in wt / mu cDNA

5 / 5

Last intron/exon boundary

1010

Theoretical NMD boundary in CDS

955

Length of CDS

1014

Coding sequence (CDS) position

187

cDNA position

191

gDNA position

3726

Chromosomal position

26090951

Speed

0.37 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:

6:26090951C>G_15_ENST00000485729

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Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 89|11 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.53, LOF (oe): 0.83, misssense (oe): 0.85, synonymous (oe): 0.85 ? (gnomAD)

Ensembl transcript ID

ENST00000485729.2

Genbank transcript ID

NM_001384164 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.187C>G
g.3726C>G

AA changes

AAE:	H63D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		63	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	63										Y	D	D	E	S	R	R	V	E	P	R	T	P	W
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)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
AYLERDCPAQ LQQLLELGRG VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL
KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERF*

Mutated AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDDESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
AYLERDCPAQ LQQLLELGRG VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL
KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERF*

Position of stopcodon in wt / mu CDS

1047 / 1047

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

349 / 349

Position of stopcodon in wt / mu cDNA

1057 / 1057

Position of start ATG in wt / mu cDNA

11 / 11

Last intron/exon boundary

1049

Theoretical NMD boundary in CDS

988

Length of CDS

1047

Coding sequence (CDS) position

187

cDNA position

197

gDNA position

3726

Chromosomal position

26090951

Speed

0.37 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:

6:26090951C>G_14_ENST00000357618

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD
Protein features (might be) affected

Model: simple_aae
Tree vote: 89|11 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.04, LOF (oe): 0.78, misssense (oe): 0.82, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000357618.10

Genbank transcript ID

NM_000410 (exact from MANE)

UniProt / AlphaMissense peptide

HFE_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.187C>G
g.3726C>G

AA changes

AAE:	H63D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		63	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	63										Y	D	D	E	S	R	R	V	E	P	R	T	P	W
Ptroglodytes	all identical	63										Y	D	H	E	S	R	R	V	E	P	R	T	P	W
Mmulatta	all identical	63										Y	D	H	E	S	R	R	V	E	P	R	T	P	W
Fcatus	all identical	69				D	Q	L	F	V	S	Y	N	H	E	S	R	R	A	E	P	R	A	Q	W
Mmusculus	all identical	67											N	H	E	S	R	R	A	E	P	R	A	P	W
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
23	114	REGION		lost
23	306	TOPO_DOM	Extracellular	lost
23	348	CHAIN		lost
56	65	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
AYLERDCPAQ LQQLLELGRG VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL
KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERE*

Mutated AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDDESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
AYLERDCPAQ LQQLLELGRG VLDQQVPPLV KVTHHVTSSV TTLRCRALNY YPQNITMKWL
KDKQPMDAKE FEPKDVLPNG DGTYQGWITL AVPPGEEQRY TCQVEHPGLD QPLIVIWEPS
PSGTLVIGVI SGIAVFVVIL FIGILFIILR KRQGSRGAMG HYVLAERE*

Position of stopcodon in wt / mu CDS

1047 / 1047

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

349 / 349

Position of stopcodon in wt / mu cDNA

1059 / 1059

Position of start ATG in wt / mu cDNA

13 / 13

Last intron/exon boundary

1018

Theoretical NMD boundary in CDS

955

Length of CDS

1047

Coding sequence (CDS) position

187

cDNA position

199

gDNA position

3726

Chromosomal position

26090951

Speed

0.12 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:

6:26090951C>G_6_ENST00000470149

Back to summary table

Prediction:

BenignPermalink

Summary:

Amino acid sequence changed
Homozygous in gnomAD

Model: simple_aae
Tree vote: 90|10 (del | benign) ?
Automatic classification due to gnomAD,
tree vote conflicts with the automatic classification ?

Analysed issue

Analysis result

Variant

Chr6:26090951C>G (GRCh38)

Gene symbol

HFE

Gene constraints

LOEUF: 1.03, LOF (oe): 0.78, misssense (oe): 0.83, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000470149.5

Genbank transcript ID

NM_001406751 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.187C>G
g.3726C>G

AA changes

AAE:	H63D	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1799945
gnomAD	homozygous (G/G)	heterozygous	allele carriers
	15277	>32000	>32000

Protein conservation

Species	Match	AA	Alignment
Human		63	Y	V	D	D	Q	L	F	V	F	Y	D	H	E	S	R	R	V	E	P	R	T	P	W	V
mutated	not conserved	63										Y	D	D	E	S	R	R	V	E	P	R	T	P	W
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)	0.444	0.664
	1.868	0.744
(flanking)	2.33	0.742

?

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

6

Strand

1

Original gDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered gDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Original cDNA sequence snippet

AGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAG

Altered cDNA sequence snippet

AGCTGTTCGTGTTCTATGATGATGAGAGTCGCCGTGTGGAG

Wildtype AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDHESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
AYLERDCPAQ LQQLLELGRG VLDQQEGSES SSLPGKVTTL RCRALNYYPQ NITMKWLKDK
QPMDAKEFEP KDVLPNGDGT YQGWITLAVP PGEEQRYTCQ VEHPGLDQPL IVIWEPSPSG
TLVIGVISGI AVFVVILFIG ILFIILRKRQ GSRGAMGHYV LAERE*

Mutated AA sequence

MGPRARPALL LLMLLQTAVL QGRLLRSHSL HYLFMGASEQ DLGLSLFEAL GYVDDQLFVF
YDDESRRVEP RTPWVSSRIS SQMWLQLSQS LKGWDHMFTV DFWTIMENHN HSKESHTLQV
ILGCEMQEDN STEGYWKYGY DGQDHLEFCP DTLDWRAAEP RAWPTKLEWE RHKIRARQNR
AYLERDCPAQ LQQLLELGRG VLDQQEGSES SSLPGKVTTL RCRALNYYPQ NITMKWLKDK
QPMDAKEFEP KDVLPNGDGT YQGWITLAVP PGEEQRYTCQ VEHPGLDQPL IVIWEPSPSG
TLVIGVISGI AVFVVILFIG ILFIILRKRQ GSRGAMGHYV LAERE*

Position of stopcodon in wt / mu CDS

1038 / 1038

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

346 / 346

Position of stopcodon in wt / mu cDNA

1087 / 1087

Position of start ATG in wt / mu cDNA

50 / 50

Last intron/exon boundary

1046

Theoretical NMD boundary in CDS

946

Length of CDS

1038

Coding sequence (CDS) position

187

cDNA position

236

gDNA position

3726

Chromosomal position

26090951

Speed

0.34 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