PROB1

protein-coding

proline rich basic protein 1

Gene summary

Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

C5orf65

MANE transcript

NM_001161546.2

Inheritance

—

ClinVar variants

U:174B:20

Top phenotype

Keratoconus 1

gnomAD constraint

pLI —, LoF o/e 0.38

Max pathogenic AF

—

Genomic locus

chr5:139,390,592-139,395,104

External References & Databases

Ensembl (ENSG00000228672)

Transcript & Mutation Effects

hg38 • Region Span ~4.5 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PROB1 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 185

not providedTotal: 9

Keratoconus 1Total: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001161546.2. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar	1 clinvar	2
missense			174 clinvar	12 clinvar	6 clinvar	192
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	174	13	7	194

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 2 of 2 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001161546.2	RefSeq	NP_001155018.1	1	MANE Select
ENST00000434752.4	Ensembl	ENSP00000416033.2	1	MANE Select

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000434752
Coding exons: 1
Length: 3251
Individuals with no LoFs: 0
Homozygous LoFs: 0
Heterozygous LoFs: 0
Defined: 0
p: 0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.57	342	434	0.788	0.0000227	6221
Missense (PolyPhen)		102	127.48	0.80013		2034
Synonymous	3.22	147	206	0.714	0.0000116	2425
Loss of Function	2.48	7	18.5	0.378	8.12e-7	235

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0	0.0	absent
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Essential (gene trap): N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	High	Medium	High
Cancer	High	High	High