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Article

PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype.

Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology - 1 Jan 2018

Avanthi Urmila Steffie, Bale Govardhan, Aslam Mohsin, Talukdar Rupjyoti, Duvvur Nageshwar Reddy, Vishnubhotla Ravikanth Venkata

Abstract excerpt

Mutations in PRSS1 gene namely R122H and N29I cause hereditary pancreatitis. They are autosomal dominant with a high penetrance (80%) reported in North American, North-east Asian, and North European ethnicities. However, the mutations are reportedly absent in Indian, African, and South American ethnicities. We report here for the first time a family from India that is positive for R122H mutation in the PRSS1...

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Source

Identifiers

PMID: 29476405
DOI: 10.1007/s12664-018-0828-y

Genes

PRSS1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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PRSS1 (R122H) mutation in an Indian family with low penetrance is associated with pancreatitis phenotype.PMID 29476405Read ↗

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