PRR29

proline rich 29

Basic information

Region (hg38): 17:63998351-64004305

Previous symbols: [ "C17orf72" ]

Links

ENSG00000224383 ∙ NCBI:92340 ∙ ∙ HGNC:25673 ∙ Uniprot:P0C7W0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PRR29 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR29 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	1		2
missense			17	1		18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			24	3		27
Total	0	0	42	5	0

Variants in PRR29

This is a list of pathogenic ClinVar variants found in the PRR29 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-63998378-C-A		not specified	Uncertain significance (Dec 03, 2024)
17-63998422-A-G		not specified	Uncertain significance (Sep 22, 2023)
17-63998423-C-T		not specified	Uncertain significance (May 31, 2023)
17-63998717-C-T		not specified	Uncertain significance (Oct 20, 2023)
17-63998752-G-A		not specified	Uncertain significance (Jan 21, 2025)
17-63998755-C-T		not specified	Uncertain significance (Jan 17, 2025)
17-63998767-G-A		not specified	Uncertain significance (Apr 09, 2024)
17-63998777-A-C		not specified	Uncertain significance (Aug 01, 2024)
17-63998997-G-A		not specified	Uncertain significance (Feb 20, 2025)
17-63999031-T-G		not specified	Uncertain significance (May 17, 2023)
17-63999037-G-C		not specified	Likely benign (Jun 29, 2022)
17-63999048-C-G		not specified	Uncertain significance (Jan 04, 2022)
17-63999058-C-A		not specified	Uncertain significance (Jan 18, 2022)
17-63999061-C-T		not specified	Uncertain significance (May 30, 2023)
17-63999069-C-T		not specified	Uncertain significance (Apr 30, 2024)
17-64001096-G-T		not specified	Uncertain significance (Jan 01, 2025)
17-64001108-G-A		not specified	Uncertain significance (Dec 28, 2023)
17-64001131-G-C		not specified	Uncertain significance (Jun 29, 2022)
17-64001133-T-C		not specified	Uncertain significance (Jan 02, 2025)
17-64001138-G-A		not specified	Uncertain significance (Aug 27, 2024)
17-64001196-C-A		not specified	Uncertain significance (Jul 13, 2022)
17-64001306-G-A		not specified	Uncertain significance (Dec 03, 2024)
17-64001736-A-G		not specified	Uncertain significance (Feb 12, 2025)
17-64001746-C-T		not specified	Likely benign (Dec 08, 2023)
17-64001758-A-G		not specified	Uncertain significance (Dec 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR29	protein_coding	protein_coding	ENST00000425164	5	5954

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00977	0.833	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.694	114	137	0.833	0.00000761	1470
Missense in Polyphen		31	30.36	1.0211		392
Synonymous	0.911	48	56.7	0.846	0.00000320	504
Loss of Function	1.13	4	7.30	0.548	3.11e-7	87

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.26
• rvis_percentile_EVS: 69.83

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: Prr29