MutationT @ ster 2025

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 144074 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 93|7 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr4:82426523C>G (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.57, LOF (oe): 0.38, misssense (oe): 1.07, synonymous (oe): 1.58 ? (gnomAD)

Ensembl transcript ID

ENST00000621267.4

Genbank transcript ID

UniProt / AlphaMissense peptide

HNRDL_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1132G>C
g.3940G>C

AA changes

AAE:	D378H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Autosomal dominant limb-girdle muscular dystrophy type 1G
HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		378	G	D	Q	N	Y	S	G	Y	G	G	Y	D	Y	T	G	Y	N	Y	G	N	Y	G	Y	G
mutated	not conserved	378	G	D	Q	N	Y	S	G	Y	G	G	Y	H	Y	T	G	Y	N	Y	G	N	Y	G	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	420	CHAIN		lost
342	420	REGION	Necessary for interaction with TNPO1	lost
376	378	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.661	1
	5.809	1
(flanking)	2.357	1

?

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

4

Strand

-1

Original gDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered gDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Original cDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered cDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Wildtype AA sequence

MEVPPRLSHV PPPLFPSAPA TLASRSLSHW RPRPPRQLAP LLPSLAPSSA RQGARRAQRH
VTAQQPSRLA GGAAIKGGRR RRPDLFRRHF KSSSIQRSAA AAAATRTARQ HPPADSSVTM
EDMNEYSNIE EFAEGSKINA SKNQQDDGKM FIGGLSWDTS KKDLTEYLSR FGEVVDCTIK
TDPVTGRSRG FGFVLFKDAA SVDKVLELKE HKLDGKLIDP KRAKALKGKE PPKKVFVGGL
SPDTSEEQIK EYFGAFGEIE NIELPMDTKT NERRGFCFIT YTDEEPVKKL LESRYHQIGS
GKCEIKVAQP KEVYRQQQQQ QKGGRGAAAG GRGGTRGRGR GQGQNWNQGF NNYYDQGYGN
YNSAYGGDQN YSGYGGYDYT GYNYGNYGYG QGYADYSGQQ STYGKASRGG GNHQNNYQPY
*

Mutated AA sequence

MEVPPRLSHV PPPLFPSAPA TLASRSLSHW RPRPPRQLAP LLPSLAPSSA RQGARRAQRH
VTAQQPSRLA GGAAIKGGRR RRPDLFRRHF KSSSIQRSAA AAAATRTARQ HPPADSSVTM
EDMNEYSNIE EFAEGSKINA SKNQQDDGKM FIGGLSWDTS KKDLTEYLSR FGEVVDCTIK
TDPVTGRSRG FGFVLFKDAA SVDKVLELKE HKLDGKLIDP KRAKALKGKE PPKKVFVGGL
SPDTSEEQIK EYFGAFGEIE NIELPMDTKT NERRGFCFIT YTDEEPVKKL LESRYHQIGS
GKCEIKVAQP KEVYRQQQQQ QKGGRGAAAG GRGGTRGRGR GQGQNWNQGF NNYYDQGYGN
YNSAYGGDQN YSGYGGYHYT GYNYGNYGYG QGYADYSGQQ STYGKASRGG GNHQNNYQPY
*

Position of stopcodon in wt / mu CDS

1263 / 1263

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

421 / 421

Position of stopcodon in wt / mu cDNA

1798 / 1798

Position of start ATG in wt / mu cDNA

536 / 536

Last intron/exon boundary

1820

Theoretical NMD boundary in CDS

1234

Length of CDS

1263

Coding sequence (CDS) position

1132

cDNA position

1667

gDNA position

3940

Chromosomal position

82426523

Speed

0.04 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

4:82426523C>G_3_ENST00000295470

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 144074 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr4:82426523C>G (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.57, LOF (oe): 0.38, misssense (oe): 1.07, synonymous (oe): 1.58 ? (gnomAD)

Ensembl transcript ID

ENST00000295470.10

Genbank transcript ID

NM_031372 (exact from MANE)

UniProt / AlphaMissense peptide

HNRDL_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1132G>C
g.3940G>C

AA changes

AAE:	D378H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Autosomal dominant limb-girdle muscular dystrophy type 1G
HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		378	G	D	Q	N	Y	S	G	Y	G	G	Y	D	Y	T	G	Y	N	Y	G	N	Y	G	Y	G
mutated	not conserved	378	G	D	Q	N	Y	S	G	Y	G	G	Y	H	Y	T	G	Y	N	Y	G	N	Y	G	Y
Ptroglodytes	all identical	378	G	D	Q	N	Y	S	G	Y	G	G	Y	D	Y	T	G	Y	N	Y	G	N	Y	G	Y
Mmulatta	all identical	378	G	D	Q	N	Y	S	G	Y	G	G	Y	D	Y	T	G	Y	N	Y	G	N	Y	G	Y
Fcatus	all identical	378	G	D	Q	N	Y	S	G	Y	G	G	Y	D	Y	T	G	Y	N	Y	G	N	Y	G	Y
Mmusculus	all identical	378	G	D	Q	N	Y	S	G	Y	G	G	Y	D	Y	T	G	Y	N	Y	G	N	Y	G	Y
Ggallus	all identical	257	S	D	Q	S	Y	S	G	Y	G	G	Y	D	Y	S	G	Y	N	Y	P	N	Y	G	Y
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	279	A	D	Q	G	YN	N	S	Y	S	G	Y	D	Y	S	G	Y	N	Y	G

Protein features

Start (aa)	End (aa)	Feature	Details
1	420	CHAIN		lost
342	420	REGION	Necessary for interaction with TNPO1	lost
376	378	STRAND		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.661	1
	5.809	1
(flanking)	2.357	1

?

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

4

Strand

-1

Original gDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered gDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Original cDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered cDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Wildtype AA sequence

MEVPPRLSHV PPPLFPSAPA TLASRSLSHW RPRPPRQLAP LLPSLAPSSA RQGARRAQRH
VTAQQPSRLA GGAAIKGGRR RRPDLFRRHF KSSSIQRSAA AAAATRTARQ HPPADSSVTM
EDMNEYSNIE EFAEGSKINA SKNQQDDGKM FIGGLSWDTS KKDLTEYLSR FGEVVDCTIK
TDPVTGRSRG FGFVLFKDAA SVDKVLELKE HKLDGKLIDP KRAKALKGKE PPKKVFVGGL
SPDTSEEQIK EYFGAFGEIE NIELPMDTKT NERRGFCFIT YTDEEPVKKL LESRYHQIGS
GKCEIKVAQP KEVYRQQQQQ QKGGRGAAAG GRGGTRGRGR GQGQNWNQGF NNYYDQGYGN
YNSAYGGDQN YSGYGGYDYT GYNYGNYGYG QGYADYSGQQ STYGKASRGG GNHQNNYQPY
*

Mutated AA sequence

MEVPPRLSHV PPPLFPSAPA TLASRSLSHW RPRPPRQLAP LLPSLAPSSA RQGARRAQRH
VTAQQPSRLA GGAAIKGGRR RRPDLFRRHF KSSSIQRSAA AAAATRTARQ HPPADSSVTM
EDMNEYSNIE EFAEGSKINA SKNQQDDGKM FIGGLSWDTS KKDLTEYLSR FGEVVDCTIK
TDPVTGRSRG FGFVLFKDAA SVDKVLELKE HKLDGKLIDP KRAKALKGKE PPKKVFVGGL
SPDTSEEQIK EYFGAFGEIE NIELPMDTKT NERRGFCFIT YTDEEPVKKL LESRYHQIGS
GKCEIKVAQP KEVYRQQQQQ QKGGRGAAAG GRGGTRGRGR GQGQNWNQGF NNYYDQGYGN
YNSAYGGDQN YSGYGGYHYT GYNYGNYGYG QGYADYSGQQ STYGKASRGG GNHQNNYQPY
*

Position of stopcodon in wt / mu CDS

1263 / 1263

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

421 / 421

Position of stopcodon in wt / mu cDNA

2035 / 2035

Position of start ATG in wt / mu cDNA

773 / 773

Last intron/exon boundary

2057

Theoretical NMD boundary in CDS

1234

Length of CDS

1263

Coding sequence (CDS) position

1132

cDNA position

1904

gDNA position

3940

Chromosomal position

82426523

Speed

0.06 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

MutationT@ster 2025

Variant:

4:82426523C>G_4_ENST00000507721

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 144074 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 96|4 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr4:82426523C>G (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.44, LOF (oe): 0.26, misssense (oe): 0.68, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000507721.5

Genbank transcript ID

UniProt / AlphaMissense peptide

HNRDL_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.775G>C
g.3940G>C

AA changes

AAE:	D259H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Autosomal dominant limb-girdle muscular dystrophy type 1G
HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		259	G	D	Q	N	Y	S	G	Y	G	G	Y	D	Y	T	G	Y	N	Y	G	N	Y	G	Y	G
mutated	not conserved	259	G	D	Q	N	Y	S	G	Y	G	G	Y	H	Y	T	G	Y	N	Y	G	N	Y	G	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	420	CHAIN		lost
233	312	DOMAIN	RRM	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.661	1
	5.809	1
(flanking)	2.357	1

?

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

4

Strand

-1

Original gDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered gDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Original cDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered cDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Wildtype AA sequence

MEDMNEYSNI EEFAEGSKIN ASKNQQDDGK MFIGGLSWDT SKKDLTEYLS RFGEVVDCTI
KTDPVTGRSR GFGFVLFKDA ASVDKVLELK EHKLDGKLID PKRAKALKGK EPPKKVFVGG
LSPDTSEEQI KEYFGAFGEI ENIELPMDTK TNERRGFCFI TYTDEEPVKK LLESRYHQIG
SGKCEIKVAQ PKEVYRQQQQ QQKGGRGAAA GGRGGTRGRG RGQGQNWNQG FNNYYDQGYG
NYNSAYGGDQ NYSGYGGYDY TGYNYGNYGY GQGYADYSGQ QSTYGKASRG GGNHQNNYQP
Y*

Mutated AA sequence

MEDMNEYSNI EEFAEGSKIN ASKNQQDDGK MFIGGLSWDT SKKDLTEYLS RFGEVVDCTI
KTDPVTGRSR GFGFVLFKDA ASVDKVLELK EHKLDGKLID PKRAKALKGK EPPKKVFVGG
LSPDTSEEQI KEYFGAFGEI ENIELPMDTK TNERRGFCFI TYTDEEPVKK LLESRYHQIG
SGKCEIKVAQ PKEVYRQQQQ QQKGGRGAAA GGRGGTRGRG RGQGQNWNQG FNNYYDQGYG
NYNSAYGGDQ NYSGYGGYHY TGYNYGNYGY GQGYADYSGQ QSTYGKASRG GGNHQNNYQP
Y*

Position of stopcodon in wt / mu CDS

906 / 906

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

302 / 302

Position of stopcodon in wt / mu cDNA

970 / 970

Position of start ATG in wt / mu cDNA

65 / 65

Last intron/exon boundary

899

Theoretical NMD boundary in CDS

784

Length of CDS

906

Coding sequence (CDS) position

775

cDNA position

839

gDNA position

3940

Chromosomal position

82426523

Speed

0.04 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

4:82426523C>G_5_ENST00000602300

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 144074 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 96|4 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr4:82426523C>G (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.44, LOF (oe): 0.26, misssense (oe): 0.68, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000602300.5

Genbank transcript ID

UniProt / AlphaMissense peptide

HNRDL_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.775G>C
g.3940G>C

AA changes

AAE:	D259H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Autosomal dominant limb-girdle muscular dystrophy type 1G
HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		259	G	D	Q	N	Y	S	G	Y	G	G	Y	D	Y	T	G	Y	N	Y	G	N	Y	G	Y	G
mutated	not conserved	259	G	D	Q	N	Y	S	G	Y	G	G	Y	H	Y	T	G	Y	N	Y	G	N	Y	G	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	420	CHAIN		lost
233	312	DOMAIN	RRM	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.661	1
	5.809	1
(flanking)	2.357	1

?

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

4

Strand

-1

Original gDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered gDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Original cDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered cDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Wildtype AA sequence

MEDMNEYSNI EEFAEGSKIN ASKNQQDDGK MFIGGLSWDT SKKDLTEYLS RFGEVVDCTI
KTDPVTGRSR GFGFVLFKDA ASVDKVLELK EHKLDGKLID PKRAKALKGK EPPKKVFVGG
LSPDTSEEQI KEYFGAFGEI ENIELPMDTK TNERRGFCFI TYTDEEPVKK LLESRYHQIG
SGKCEIKVAQ PKEVYRQQQQ QQKGGRGAAA GGRGGTRGRG RGQGQNWNQG FNNYYDQGYG
NYNSAYGGDQ NYSGYGGYDY TGYNYGNYGY GQGYADYSGQ QSTYGKASRG GGNHQNNYQP
Y*

Mutated AA sequence

MEDMNEYSNI EEFAEGSKIN ASKNQQDDGK MFIGGLSWDT SKKDLTEYLS RFGEVVDCTI
KTDPVTGRSR GFGFVLFKDA ASVDKVLELK EHKLDGKLID PKRAKALKGK EPPKKVFVGG
LSPDTSEEQI KEYFGAFGEI ENIELPMDTK TNERRGFCFI TYTDEEPVKK LLESRYHQIG
SGKCEIKVAQ PKEVYRQQQQ QQKGGRGAAA GGRGGTRGRG RGQGQNWNQG FNNYYDQGYG
NYNSAYGGDQ NYSGYGGYHY TGYNYGNYGY GQGYADYSGQ QSTYGKASRG GGNHQNNYQP
Y*

Position of stopcodon in wt / mu CDS

906 / 906

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

302 / 302

Position of stopcodon in wt / mu cDNA

1014 / 1014

Position of start ATG in wt / mu cDNA

109 / 109

Last intron/exon boundary

1036

Theoretical NMD boundary in CDS

877

Length of CDS

906

Coding sequence (CDS) position

775

cDNA position

883

gDNA position

3940

Chromosomal position

82426523

Speed

0.06 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

MutationT@ster 2025

Variant:

4:82426523C>G_6_ENST00000630827

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 144074 (pathogenic)
Protein features (might be) affected

Model: simple_aae
Tree vote: 96|4 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr4:82426523C>G (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.44, LOF (oe): 0.26, misssense (oe): 0.68, synonymous (oe): 1.25 ? (gnomAD)

Ensembl transcript ID

ENST00000630827.1

Genbank transcript ID

UniProt / AlphaMissense peptide

HNRDL_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.775G>C
g.3940G>C

AA changes

AAE:	D259H	?
Score:	81

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Autosomal dominant limb-girdle muscular dystrophy type 1G
HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

Species	Match	AA	Alignment
Human		259	G	D	Q	N	Y	S	G	Y	G	G	Y	D	Y	T	G	Y	N	Y	G	N	Y	G	Y	G
mutated	not conserved	259	G	D	Q	N	Y	S	G	Y	G	G	Y	H	Y	T	G	Y	N	Y	G	N	Y	G	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	420	CHAIN		lost
233	312	DOMAIN	RRM	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.661	1
	5.809	1
(flanking)	2.357	1

?

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

4

Strand

-1

Original gDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered gDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Original cDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered cDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Wildtype AA sequence

MEDMNEYSNI EEFAEGSKIN ASKNQQDDGK MFIGGLSWDT SKKDLTEYLS RFGEVVDCTI
KTDPVTGRSR GFGFVLFKDA ASVDKVLELK EHKLDGKLID PKRAKALKGK EPPKKVFVGG
LSPDTSEEQI KEYFGAFGEI ENIELPMDTK TNERRGFCFI TYTDEEPVKK LLESRYHQIG
SGKCEIKVAQ PKEVYRQQQQ QQKGGRGAAA GGRGGTRGRG RGQGQNWNQG FNNYYDQGYG
NYNSAYGGDQ NYSGYGGYDY TGYNYGNYGY GQGYADYSGQ QSTYGKASRG GGNHQNNYQP
Y*

Mutated AA sequence

MEDMNEYSNI EEFAEGSKIN ASKNQQDDGK MFIGGLSWDT SKKDLTEYLS RFGEVVDCTI
KTDPVTGRSR GFGFVLFKDA ASVDKVLELK EHKLDGKLID PKRAKALKGK EPPKKVFVGG
LSPDTSEEQI KEYFGAFGEI ENIELPMDTK TNERRGFCFI TYTDEEPVKK LLESRYHQIG
SGKCEIKVAQ PKEVYRQQQQ QQKGGRGAAA GGRGGTRGRG RGQGQNWNQG FNNYYDQGYG
NYNSAYGGDQ NYSGYGGYHY TGYNYGNYGY GQGYADYSGQ QSTYGKASRG GGNHQNNYQP
Y*

Position of stopcodon in wt / mu CDS

906 / 906

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

302 / 302

Position of stopcodon in wt / mu cDNA

1043 / 1043

Position of start ATG in wt / mu cDNA

138 / 138

Last intron/exon boundary

1065

Theoretical NMD boundary in CDS

877

Length of CDS

906

Coding sequence (CDS) position

775

cDNA position

912

gDNA position

3940

Chromosomal position

82426523

Speed

0.03 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

MutationT@ster 2025

Variant:

4:82426523C>G_1_ENST00000614627

Prediction:

DeleteriousPermalink

Summary:

Known disease mutation: ClinVar ID 144074 (pathogenic)

Model: without_aae
Tree vote: 164|36 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr4:82426523C>G (GRCh38)

Gene symbol

Gene constraints

LOEUF: 0.69, LOF (oe): 0.44, misssense (oe): 1.10, synonymous (oe): 1.70 ? (gnomAD)

Ensembl transcript ID

ENST00000614627.4

Genbank transcript ID

NM_001207000 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1022-394G>C
g.3940G>C

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Autosomal dominant limb-girdle muscular dystrophy type 1G
HNRNPDL-related myopathy with protein aggregates and rimmed vacuoles

pathogenic

Variant DBs

	Not in dbSNP
	Allele 'G' was not found in gnomAD

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	7.661	1
	5.809	1
(flanking)	2.357	1

?

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

4

Strand

-1

Original gDNA sequence snippet

ATAGTGGCTATGGCGGATATGATTATACTGGGTATAACTAT

Altered gDNA sequence snippet

ATAGTGGCTATGGCGGATATCATTATACTGGGTATAACTAT

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MEVPPRLSHV PPPLFPSAPA TLASRSLSHW RPRPPRQLAP LLPSLAPSSA RQGARRAQRH
VTAQQPSRLA GGAAIKGGRR RRPDLFRRHF KSSSIQRSAA AAAATRTARQ HPPADSSVTM
EDMNEYSNIE EFAEGSKINA SKNQQDDGKM FIGGLSWDTS KKDLTEYLSR FGEVVDCTIK
TDPVTGRSRG FGFVLFKDAA SVDKVLELKE HKLDGKLIDP KRAKALKGKE PPKKVFVGGL
SPDTSEEQIK EYFGAFGEIE NIELPMDTKT NERRGFCFIT YTDEEPVKKL LESRYHQIGS
GKCEIKVAQP KEVYRQQQQQ QKGGRGAAAG GRGGTRGRGR GQQSTYGKAS RGGGNHQNNY
QPY*

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

536 / 536

Last intron/exon boundary

1649

Theoretical NMD boundary in CDS

1063

Length of CDS

1092

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

3940

Chromosomal position

82426523

Speed

0.03 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