NM_003781.4(B3GALNT1):c.797A>C (p.Glu266Ala) AND p phenotype

Germline classification:: Affects (1 submission)
Last evaluated:: Aug 16, 2002
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:: RCV000007015.3

Allele description [Variation Report for NM_003781.4(B3GALNT1):c.797A>C (p.Glu266Ala)]

NM_003781.4(B3GALNT1):c.797A>C (p.Glu266Ala)

Gene:

B3GALNT1:beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q26.1

Genomic location:

Preferred name:

NM_003781.4(B3GALNT1):c.797A>C (p.Glu266Ala)

Other names:

B3GALT3, GLU266ALA

HGVS:

NC_000003.12:g.161085958T>G
NG_007854.1:g.24415A>C
NM_001038628.2:c.797A>C
NM_001349130.2:c.797A>C
NM_001349131.2:c.797A>C
NM_001349132.2:c.797A>C
NM_001349133.2:c.797A>C
NM_001349134.2:c.797A>C
NM_001349135.2:c.797A>C
NM_001349136.2:c.797A>C
NM_001349137.2:c.797A>C
NM_001349138.2:c.797A>C
NM_001349139.2:c.797A>C
NM_001349140.2:c.797A>C
NM_001349141.2:c.797A>C
NM_001349142.2:c.797A>C
NM_001349143.2:c.797A>C
NM_001349144.2:c.797A>C
NM_001349145.2:c.797A>C
NM_001349146.2:c.797A>C
NM_001349147.2:c.797A>C
NM_001349148.2:c.797A>C
NM_001349149.2:c.797A>C
NM_001349150.2:c.797A>C
NM_001349151.2:c.797A>C
NM_001349152.2:c.797A>C
NM_001349153.2:c.797A>C
NM_001349154.2:c.797A>C
NM_001349155.2:c.797A>C
NM_001349156.2:c.797A>C
NM_001349157.2:c.797A>C
NM_001349158.2:c.797A>C
NM_001349159.2:c.797A>C
NM_001349160.1:c.797A>C
NM_001349161.2:c.797A>C
NM_001349162.2:c.1157A>C
NM_001349163.2:c.1157A>C
NM_003781.4:c.797A>CMANE SELECT
NM_033167.3:c.797A>C
NM_033168.3:c.797A>C
NM_033169.3:c.797A>C
NP_001033717.1:p.Glu266Ala
NP_001336059.1:p.Glu266Ala
NP_001336060.1:p.Glu266Ala
NP_001336061.1:p.Glu266Ala
NP_001336062.1:p.Glu266Ala
NP_001336063.1:p.Glu266Ala
NP_001336064.1:p.Glu266Ala
NP_001336065.1:p.Glu266Ala
NP_001336066.1:p.Glu266Ala
NP_001336067.1:p.Glu266Ala
NP_001336068.1:p.Glu266Ala
NP_001336069.1:p.Glu266Ala
NP_001336070.1:p.Glu266Ala
NP_001336071.1:p.Glu266Ala
NP_001336072.1:p.Glu266Ala
NP_001336073.1:p.Glu266Ala
NP_001336074.1:p.Glu266Ala
NP_001336075.1:p.Glu266Ala
NP_001336076.1:p.Glu266Ala
NP_001336077.1:p.Glu266Ala
NP_001336078.1:p.Glu266Ala
NP_001336079.1:p.Glu266Ala
NP_001336080.1:p.Glu266Ala
NP_001336081.1:p.Glu266Ala
NP_001336082.1:p.Glu266Ala
NP_001336083.1:p.Glu266Ala
NP_001336084.1:p.Glu266Ala
NP_001336085.1:p.Glu266Ala
NP_001336086.1:p.Glu266Ala
NP_001336087.1:p.Glu266Ala
NP_001336088.1:p.Glu266Ala
NP_001336089.1:p.Glu266Ala
NP_001336090.1:p.Glu266Ala
NP_001336091.1:p.Glu386Ala
NP_001336092.1:p.Glu386Ala
NP_003772.1:p.Glu266Ala
NP_149357.1:p.Glu266Ala
NP_149358.1:p.Glu266Ala
NP_149359.1:p.Glu266Ala
LRG_820t1:c.797A>C
LRG_820t2:c.797A>C
LRG_820:g.24415A>C
LRG_820p1:p.Glu266Ala
LRG_820p2:p.Glu266Ala
NC_000003.11:g.160803746T>G
O75752:p.Glu266Ala

Protein change:

E266A; GLU266ALA

Links:

UniProtKB: O75752#VAR_019646; OMIM: 603094.0004; dbSNP: rs28937582

NCBI 1000 Genomes Browser:

rs28937582

Molecular consequence:

NM_001038628.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349130.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349131.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349132.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349133.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349134.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349135.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349136.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349137.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349138.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349139.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349140.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349141.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349142.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349143.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349144.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349145.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349146.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349147.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349148.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349149.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349150.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349151.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349152.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349153.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349154.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349155.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349156.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349157.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349158.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349159.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349160.1:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349161.2:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349162.2:c.1157A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001349163.2:c.1157A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_003781.4:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033167.3:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033168.3:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_033169.3:c.797A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: p phenotype
Synonyms:: P1PK BLOOD GROUP SYSTEM, p PHENOTYPE
Identifiers:: MedGen: C0599990

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000027211	OMIM	no assertion criteria provided	Affects (Aug 16, 2002)	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

SCV000027211

OMIM

no assertion criteria provided

Affects
(Aug 16, 2002)

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

Molecular basis of the globoside-deficient P(k) blood group phenotype. Identification of four inactivating mutations in the UDP-N-acetylgalactosamine: globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase gene.

Hellberg A, Poole J, Olsson ML.

J Biol Chem. 2002 Aug 16;277(33):29455-9. Epub 2002 May 21.

PubMed [citation]

PMID:: 12023287

Details of each submission

From OMIM, SCV000027211.1

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

Description

In a blood sample from a French patient with the P(2)(k) phenotype of the P1PK blood group system (see 111400), Hellberg et al. (2002) identified a homozygous 797A-C transversion, resulting in a glu266-to-ala substitution (E266A). The mutation was not detected in 440 European alleles. Sequence comparison with similar genes showed that the mutation involves charged versus noncharged residues in a highly conserved area of the C-terminal domain of the transferase, which likely renders it inactive.

#	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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