NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg) AND Hermansky-Pudlak syndrome 2

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1999
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000006744.6

Allele description [Variation Report for NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg)]

NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg)

Gene:

AP3B1:adaptor related protein complex 3 subunit beta 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q14.1

Genomic location:

Preferred name:

NM_003664.5(AP3B1):c.1739T>G (p.Leu580Arg)

Other names:

AP3B1, LEU540ARG

HGVS:

NC_000005.10:g.78129219A>C
NG_007268.1:g.170486T>G
NM_001271769.2:c.1592T>G
NM_003664.5:c.1739T>GMANE SELECT
NP_001258698.1:p.Leu531Arg
NP_003655.3:p.Leu580Arg
LRG_170:g.170486T>G
NC_000005.9:g.77425043A>C
O00203:p.Leu580Arg

Note:

NCBI staff reviewed the sequence information reported in PubMed 10024875 to determine the location of this allele on current reference sequence.

Protein change:

L531R

Links:

UniProtKB: O00203#VAR_011596; OMIM: 603401.0002; dbSNP: rs121908904

NCBI 1000 Genomes Browser:

rs121908904

Molecular consequence:

NM_001271769.2:c.1592T>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003664.5:c.1739T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Hermansky-Pudlak syndrome 2 (HPS2)
Synonyms:: Platelet defects and oculocutaneous albinism
Identifiers:: MONDO: MONDO:0011997; MedGen: C1842362; Orphanet: 79430; OMIM: 608233

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026936	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1999)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026936

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1999)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor.

Dell'Angelica EC, Shotelersuk V, Aguilar RC, Gahl WA, Bonifacino JS.

Mol Cell. 1999 Jan;3(1):11-21.

PubMed [citation]

PMID:: 10024875

Details of each submission

From OMIM, SCV000026936.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Dell'Angelica et al. (1999) described a CTT-to-CGT substitution at codon 540 of 1 allele of the beta-3A-adaptin cDNA sequence, resulting in a leu540-to-arg (L540R) substitution in 2 affected members of a family with Hermansky-Pudlak syndrome-2 (HPS2; 608233). The other allele had a 63-bp deletion (603401.0001).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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