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: ENST00000381553
Querying Taster for transcript #2: ENST00000360581
Querying Taster for transcript #3: ENST00000381542
Querying Taster for transcript #4: ENST00000359791
Querying Taster for transcript #5: ENST00000531252
Querying Taster for transcript #6: ENST00000381539
MT speed 0.49 s - this script 2.934216 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000360581(MANE Select)	NPSR1	Deleterious	70\|30	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000381539	NPSR1	Deleterious	81\|19	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000381553	NPSR1	Deleterious	94\|6	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000359791	NPSR1	Deleterious	95\|5	simple_aae	No	Single base exchange	Normal	Amino acid sequence changed Protein features (might be) affected
ENST00000381542	NPSR1	Deleterious	112\|88	without_aae	No	Single base exchange	N/A
ENST00000531252	NPSR1	Deleterious	120\|80	without_aae	No	Single base exchange	N/A

MutationT@ster 2025

Variant:

7:34778471C>T_2_ENST00000360581

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 70|30 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:34778471C>T (GRCh38)

Gene symbol

NPSR1

Gene constraints

LOEUF: 1.41, LOF (oe): 1.06, misssense (oe): 0.95, synonymous (oe): 0.98 ? (gnomAD)

Ensembl transcript ID

ENST00000360581.6

Genbank transcript ID

NM_207172 (exact from MANE)

UniProt / AlphaMissense peptide

NPSR1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.290C>T
g.120254C>T

AA changes

AAE:	T97I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1562720134
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	10	10

Protein conservation

Species	Match	AA	Alignment
Human		97	F	V	T	Q	L	A	I	T	D	S	F	T	G	L	V	N	I	L	T	D	I	N	W	R
mutated	not conserved	97	F	V	T	Q	L	A	I	T	D	S	F	I	G	L	V	N	I	L	T	D	I	N	W
Ptroglodytes	all identical	97	F	V	T	Q	L	A	I	T	D	S	F	T	G	L	V	N	I	L	T	D	I	I	W
Mmulatta	all identical	97	F	V	T	Q	L	A	I	T	D	S	F	T	G	L	V	N	I	L	T	D	I	I	W
Fcatus	all identical	100	F	V	T	Q	L	A	I	T	D	S	F	T	G	L	V	N	I	L	T	D	I	I	W
Mmusculus	all identical	97	F	V	T	Q	L	A	I	T	D	S	F	T	G	L	I	N	I	L	T	D	I	I	W
Ggallus	all identical	97	F	V	T	Q	L	A	I	T	D	S	F	T	G	L	I	N	I	M	T	D	I	I	W
Trubripes	not conserved	1704	F	V	L	N	L	G	I	S	D	V	L	Y	L	L	T	V	P	F	L	V	V	Y	Y
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	all identical	97	F	V	T	Q	L	A	I	T	D	Y	L	T	G	I	I	S	I	S	V	N	I	I	W

Protein features

Start (aa)	End (aa)	Feature	Details
1	371	CHAIN		lost
83	103	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.649	1
	4.755	1
(flanking)	0.126	0.988

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

10

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

1

Original gDNA sequence snippet

GTTTTTGTTAGATTCTTTCACAGGACTGGTCAACATCTTGA

Altered gDNA sequence snippet

GTTTTTGTTAGATTCTTTCATAGGACTGGTCAACATCTTGA

Original cDNA sequence snippet

GGCCATCACAGATTCTTTCACAGGACTGGTCAACATCTTGA

Altered cDNA sequence snippet

GGCCATCACAGATTCTTTCATAGGACTGGTCAACATCTTGA

Wildtype AA sequence

MPANFTEGSF DSSGTGQTLD SSPVACTETV TFTEVVEGKE WGSFYYSFKT EQLITLWVLF
VFTIVGNSVV LFSTWRRKKK SRMTFFVTQL AITDSFTGLV NILTDINWRF TGDFTAPDLV
CRVVRYLQVV LLYASTYVLV SLSIDRYHAI VYPMKFLQGE KQARVLIVIA WSLSFLFSIP
TLIIFGKRTL SNGEVQCWAL WPDDSYWTPY MTIVAFLVYF IPLTIISIMY GIVIRTIWIK
SKTYETVISN CSDGKLCSSY NRGLISKAKI KAIKYSIIII LAFICCWSPY FLFDILDNFN
LLPDTQERFY ASVIIQNLPA LNSAINPLIY CVFSSSISFP CREQRSQDSR MTFRERTERH
EMQILSKPEF I*

Mutated AA sequence

MPANFTEGSF DSSGTGQTLD SSPVACTETV TFTEVVEGKE WGSFYYSFKT EQLITLWVLF
VFTIVGNSVV LFSTWRRKKK SRMTFFVTQL AITDSFIGLV NILTDINWRF TGDFTAPDLV
CRVVRYLQVV LLYASTYVLV SLSIDRYHAI VYPMKFLQGE KQARVLIVIA WSLSFLFSIP
TLIIFGKRTL SNGEVQCWAL WPDDSYWTPY MTIVAFLVYF IPLTIISIMY GIVIRTIWIK
SKTYETVISN CSDGKLCSSY NRGLISKAKI KAIKYSIIII LAFICCWSPY FLFDILDNFN
LLPDTQERFY ASVIIQNLPA LNSAINPLIY CVFSSSISFP CREQRSQDSR MTFRERTERH
EMQILSKPEF I*

Position of stopcodon in wt / mu CDS

1116 / 1116

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

372 / 372

Position of stopcodon in wt / mu cDNA

1311 / 1311

Position of start ATG in wt / mu cDNA

196 / 196

Last intron/exon boundary

1220

Theoretical NMD boundary in CDS

974

Length of CDS

1116

Coding sequence (CDS) position

290

cDNA position

485

gDNA position

120254

Chromosomal position

34778471

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:

7:34778471C>T_6_ENST00000381539

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 81|19 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:34778471C>T (GRCh38)

Gene symbol

NPSR1

Gene constraints

LOEUF: 1.20, LOF (oe): 0.89, misssense (oe): 0.93, synonymous (oe): 1.01 ? (gnomAD)

Ensembl transcript ID

ENST00000381539.3

Genbank transcript ID

NM_001300935 (by similarity)

UniProt / AlphaMissense peptide

NPSR1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.290C>T
g.120254C>T

AA changes

AAE:	T97I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1562720134
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	10	10

Protein conservation

Species	Match	AA	Alignment
Human		97	F	V	T	Q	L	A	I	T	D	S	F	T	G	L	V	N	I	L	T	D	I	N	W	R
mutated	not conserved	97	F	V	T	Q	L	A	I	T	D	S	F	I	G	L	V	N	I	L	T	D	I	N	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
1	371	CHAIN		lost
83	103	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.649	1
	4.755	1
(flanking)	0.126	0.988

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

10

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

1

Original gDNA sequence snippet

GTTTTTGTTAGATTCTTTCACAGGACTGGTCAACATCTTGA

Altered gDNA sequence snippet

GTTTTTGTTAGATTCTTTCATAGGACTGGTCAACATCTTGA

Original cDNA sequence snippet

GGCCATCACAGATTCTTTCACAGGACTGGTCAACATCTTGA

Altered cDNA sequence snippet

GGCCATCACAGATTCTTTCATAGGACTGGTCAACATCTTGA

Wildtype AA sequence

MPANFTEGSF DSSGTGQTLD SSPVACTETV TFTEVVEGKE WGSFYYSFKT EQLITLWVLF
VFTIVGNSVV LFSTWRRKKK SRMTFFVTQL AITDSFTGLV NILTDINWRF TGDFTAPDLV
CRVVRYLQVV LLYASTYVLV SLSIDRYHAI VYPMKFLQGE KQARVLIVIA WSLSFLFSIP
TLIIFGKRTL SNGEVQCWAL WPDDSYWTPY MTIVAFLVYF IPLTIISIMY GIVIRTIWIK
SKTYETVISN CSDGKLCSSY NRGLISKAKI KAIKYSIIII LAFICCWSPY FLFDILDNFN
LLPDTQERFY ASVIIQNLPA LNSAINPLIY CVFSSSISFP CRANSSVYLL ACDVSVLWAL
VLTSEKESCE SWRRKGAKIT GFQNDVPGEN *

Mutated AA sequence

MPANFTEGSF DSSGTGQTLD SSPVACTETV TFTEVVEGKE WGSFYYSFKT EQLITLWVLF
VFTIVGNSVV LFSTWRRKKK SRMTFFVTQL AITDSFIGLV NILTDINWRF TGDFTAPDLV
CRVVRYLQVV LLYASTYVLV SLSIDRYHAI VYPMKFLQGE KQARVLIVIA WSLSFLFSIP
TLIIFGKRTL SNGEVQCWAL WPDDSYWTPY MTIVAFLVYF IPLTIISIMY GIVIRTIWIK
SKTYETVISN CSDGKLCSSY NRGLISKAKI KAIKYSIIII LAFICCWSPY FLFDILDNFN
LLPDTQERFY ASVIIQNLPA LNSAINPLIY CVFSSSISFP CRANSSVYLL ACDVSVLWAL
VLTSEKESCE SWRRKGAKIT GFQNDVPGEN *

Position of stopcodon in wt / mu CDS

1173 / 1173

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

391 / 391

Position of stopcodon in wt / mu cDNA

1177 / 1177

Position of start ATG in wt / mu cDNA

5 / 5

Last intron/exon boundary

1129

Theoretical NMD boundary in CDS

1074

Length of CDS

1173

Coding sequence (CDS) position

290

cDNA position

294

gDNA position

120254

Chromosomal position

34778471

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:

7:34778471C>T_1_ENST00000381553

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 94|6 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:34778471C>T (GRCh38)

Gene symbol

NPSR1

Gene constraints

LOEUF: 1.58, LOF (oe): 0.99, misssense (oe): 0.90, synonymous (oe): 0.93 ? (gnomAD)

Ensembl transcript ID

ENST00000381553.7

Genbank transcript ID

UniProt / AlphaMissense peptide

NPSR1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.290C>T
g.120254C>T

AA changes

AAE:	T97I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1562720134
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	10	10

Protein conservation

Species	Match	AA	Alignment
Human		97	F	V	T	Q	L	A	I	T	D	S	F	T	G	L	V	N	I	L	T	D	I	N	W	R
mutated	not conserved	97	F	V	T	Q	L	A	I	T	D	S	F	I	G	L	V	N	I	L	T	D	I	N	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
1	371	CHAIN		lost
83	103	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.649	1
	4.755	1
(flanking)	0.126	0.988

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

10

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

1

Original gDNA sequence snippet

GTTTTTGTTAGATTCTTTCACAGGACTGGTCAACATCTTGA

Altered gDNA sequence snippet

GTTTTTGTTAGATTCTTTCATAGGACTGGTCAACATCTTGA

Original cDNA sequence snippet

GGCCATCACAGATTCTTTCACAGGACTGGTCAACATCTTGA

Altered cDNA sequence snippet

GGCCATCACAGATTCTTTCATAGGACTGGTCAACATCTTGA

Wildtype AA sequence

MPANFTEGSF DSSGTGQTLD SSPVACTETV TFTEVVEGKE WGSFYYSFKT EQLITLWVLF
VFTIVGNSVV LFSTWRRKKK SRMTFFVTQL AITDSFTGLV NILTDINWRF TGDFTAPDLV
CRVVRYLQVM VMKLFHIQKM NME*

Mutated AA sequence

MPANFTEGSF DSSGTGQTLD SSPVACTETV TFTEVVEGKE WGSFYYSFKT EQLITLWVLF
VFTIVGNSVV LFSTWRRKKK SRMTFFVTQL AITDSFIGLV NILTDINWRF TGDFTAPDLV
CRVVRYLQVM VMKLFHIQKM NME*

Position of stopcodon in wt / mu CDS

432 / 432

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

144 / 144

Position of stopcodon in wt / mu cDNA

606 / 606

Position of start ATG in wt / mu cDNA

175 / 175

Last intron/exon boundary

558

Theoretical NMD boundary in CDS

333

Length of CDS

432

Coding sequence (CDS) position

290

cDNA position

464

gDNA position

120254

Chromosomal position

34778471

Speed

0.09 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:

7:34778471C>T_4_ENST00000359791

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Protein features (might be) affected

Model: simple_aae
Tree vote: 95|5 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:34778471C>T (GRCh38)

Gene symbol

NPSR1

Gene constraints

LOEUF: 1.36, LOF (oe): 0.99, misssense (oe): 0.95, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000359791.5

Genbank transcript ID

NM_207173 (by similarity)

UniProt / AlphaMissense peptide

NPSR1_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.290C>T
g.120254C>T

AA changes

AAE:	T97I	?
Score:	89

Frameshift

No

Length of protein

Normal

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs1562720134
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	10	10

Protein conservation

Species	Match	AA	Alignment
Human		97	F	V	T	Q	L	A	I	T	D	S	F	T	G	L	V	N	I	L	T	D	I	N	W	R
mutated	not conserved	97	F	V	T	Q	L	A	I	T	D	S	F	I	G	L	V	N	I	L	T	D	I	N	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
1	371	CHAIN		lost
83	103	TRANSMEM	Helical	lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.649	1
	4.755	1
(flanking)	0.126	0.988

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

10

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

7

Strand

1

Original gDNA sequence snippet

GTTTTTGTTAGATTCTTTCACAGGACTGGTCAACATCTTGA

Altered gDNA sequence snippet

GTTTTTGTTAGATTCTTTCATAGGACTGGTCAACATCTTGA

Original cDNA sequence snippet

GGCCATCACAGATTCTTTCACAGGACTGGTCAACATCTTGA

Altered cDNA sequence snippet

GGCCATCACAGATTCTTTCATAGGACTGGTCAACATCTTGA

Wildtype AA sequence

MPANFTEGSF DSSGTGQTLD SSPVACTETV TFTEVVEGKE WGSFYYSFKT EQLITLWVLF
VFTIVGNSVV LFSTWRRKKK SRMTFFVTQL AITDSFTGLV NILTDINWRF TGDFTAPDLV
CRVVRYLQVV LLYASTYVLV SLSIDRYHAI VYPMKFLQGE KQARVLIVIA WSLSFLFSIP
TLIIFGKRTL SNGEVQCWAL WPDDSYWTPY MTIVAFLVYF IPLTIISIMY GIVIRTIWIK
SKTYETVISN CSDGKLCSSY NRGLISKAKI KAIKYSIIII LAFICCWSPY FLFDILDNFN
LLPDTQERFY ASVIIQNLPA LNSAINPLIY CVFSSSISFP CRVIRLRQLQ EAALMLCPQR
ENWKGTWPGV PSWALPR*

Mutated AA sequence

MPANFTEGSF DSSGTGQTLD SSPVACTETV TFTEVVEGKE WGSFYYSFKT EQLITLWVLF
VFTIVGNSVV LFSTWRRKKK SRMTFFVTQL AITDSFIGLV NILTDINWRF TGDFTAPDLV
CRVVRYLQVV LLYASTYVLV SLSIDRYHAI VYPMKFLQGE KQARVLIVIA WSLSFLFSIP
TLIIFGKRTL SNGEVQCWAL WPDDSYWTPY MTIVAFLVYF IPLTIISIMY GIVIRTIWIK
SKTYETVISN CSDGKLCSSY NRGLISKAKI KAIKYSIIII LAFICCWSPY FLFDILDNFN
LLPDTQERFY ASVIIQNLPA LNSAINPLIY CVFSSSISFP CRVIRLRQLQ EAALMLCPQR
ENWKGTWPGV PSWALPR*

Position of stopcodon in wt / mu CDS

1134 / 1134

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

378 / 378

Position of stopcodon in wt / mu cDNA

1262 / 1262

Position of start ATG in wt / mu cDNA

129 / 129

Last intron/exon boundary

1153

Theoretical NMD boundary in CDS

974

Length of CDS

1134

Coding sequence (CDS) position

290

cDNA position

418

gDNA position

120254

Chromosomal position

34778471

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:

7:34778471C>T_3_ENST00000381542

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 112|88 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:34778471C>T (GRCh38)

Gene symbol

NPSR1

Gene constraints

LOEUF: 1.39, LOF (oe): 1.01, misssense (oe): 0.97, synonymous (oe): 0.97 ? (gnomAD)

Ensembl transcript ID

ENST00000381542.5

Genbank transcript ID

NM_001300934 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.281-48930C>T
g.120254C>T

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	rs1562720134
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	10	10

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.649	1
	4.755	1
(flanking)	0.126	0.988

?

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

7

Strand

1

Original gDNA sequence snippet

GTTTTTGTTAGATTCTTTCACAGGACTGGTCAACATCTTGA

Altered gDNA sequence snippet

GTTTTTGTTAGATTCTTTCATAGGACTGGTCAACATCTTGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPANFTEGSF DSSGTGQTLD SSPVACTETV TFTEVVEGKE WGSFYYSFKT EQLITLWVLF
VFTIVGNSVV LFSTWRRKKK SRMTFFVTQL AITEKQARVL IVIAWSLSFL FSIPTLIIFG
KRTLSNGEVQ CWALWPDDSY WTPYMTIVAF LVYFIPLTII SIMYGIVIRT IWIKSKTYET
VISNCSDGKL CSSYNRGLIS KAKIKAIKYS IIIILAFICC WSPYFLFDIL DNFNLLPDTQ
ERFYASVIIQ NLPALNSAIN PLIYCVFSSS ISFPCREQRS QDSRMTFRER TERHEMQILS
KPEFI*

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

129 / 129

Last intron/exon boundary

955

Theoretical NMD boundary in CDS

776

Length of CDS

918

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

120254

Chromosomal position

34778471

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:

7:34778471C>T_5_ENST00000531252

Back to summary table

Prediction:

DeleteriousPermalink

Summary:

Model: without_aae
Tree vote: 120|80 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr7:34778471C>T (GRCh38)

Gene symbol

NPSR1

Gene constraints

LOEUF: 1.36, LOF (oe): 0.99, misssense (oe): 0.95, synonymous (oe): 1.02 ? (gnomAD)

Ensembl transcript ID

ENST00000531252.5

Genbank transcript ID

NM_001300933 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.281-24C>T
g.120254C>T

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	rs1562720134
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	0	10	10

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	5.649	1
	4.755	1
(flanking)	0.126	0.988

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

24

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

7

Strand

1

Original gDNA sequence snippet

GTTTTTGTTAGATTCTTTCACAGGACTGGTCAACATCTTGA

Altered gDNA sequence snippet

GTTTTTGTTAGATTCTTTCATAGGACTGGTCAACATCTTGA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MPANFTEGSF DSSGTGQTLD SSPVACTETV TFTEVVEGKE WGSFYYSFKT EQLITLWVLF
VFTIVGNSVV LFSTWRRKKK SRMTFFVTQL AITDINWRFT GDFTAPDLVC RVVRYLQVVL
LYASTYVLVS LSIDRYHAIV YPMKFLQGEK QARVLIVIAW SLSFLFSIPT LIIFGKRTLS
NGEVQCWALW PDDSYWTPYM TIVAFLVYFI PLTIISIMYG IVIRTIWIKS KTYETVISNC
SDGKLCSSYN RGLISKAKIK AIKYSIIIIL AFICCWSPYF LFDILDNFNL LPDTQERFYA
SVIIQNLPAL NSAINPLIYC VFSSSISFPC RVIRLRQLQE AALMLCPQRE NWKGTWPGVP
SWALPR*

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

129 / 129

Last intron/exon boundary

1120

Theoretical NMD boundary in CDS

941

Length of CDS

1101

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

120254

Chromosomal position

34778471

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