NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) AND Infantile hypophosphatasia

Clinical significance:Pathogenic (Last evaluated: Oct 3, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000014672.28

Allele description [Variation Report for NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)]

NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)

Gene:
ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.12
Genomic location:
Preferred name:
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser)
Other names:
N400S
HGVS:
  • NC_000001.11:g.21576582A>G
  • NG_008940.1:g.72218A>G
  • NM_000478.6:c.1250A>GMANE SELECT
  • NM_001127501.4:c.1085A>G
  • NM_001177520.3:c.1019A>G
  • NM_001369803.2:c.1250A>G
  • NM_001369804.2:c.1250A>G
  • NM_001369805.2:c.1250A>G
  • NP_000469.3:p.Asn417Ser
  • NP_001120973.2:p.Asn362Ser
  • NP_001170991.1:p.Asn340Ser
  • NP_001356732.1:p.Asn417Ser
  • NP_001356733.1:p.Asn417Ser
  • NP_001356734.1:p.Asn417Ser
  • NC_000001.10:g.21903075A>G
  • NM_000478.4:c.1250A>G
  • NM_000478.5:c.1250A>G
  • P05186:p.Asn417Ser
Protein change:
N340S; ASN400SER
Links:
UniProtKB: P05186#VAR_025937; OMIM: 171760.0017; dbSNP: rs121918014
NCBI 1000 Genomes Browser:
rs121918014
Molecular consequence:
  • NM_000478.6:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127501.4:c.1085A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001177520.3:c.1019A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369803.2:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369804.2:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369805.2:c.1250A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Infantile hypophosphatasia (HPPI)
Synonyms:
Phosphoethanolaminuria; High urine phosphoethanolamine levels
Identifiers:
MedGen: C0268412; Orphanet: 436; OMIM: 241500; Human Phenotype Ontology: HP:0003239

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000221154Counsylno assertion criteria providedPathogenic
(Oct 3, 2018)
unknownclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

An asparagine at position 417 of tissue-nonspecific alkaline phosphatase is essential for its structure and function as revealed by analysis of the N417S mutation associated with severe hypophosphatasia.

Sultana S, Al-Shawafi HA, Makita S, Sohda M, Amizuka N, Takagi R, Oda K.

Mol Genet Metab. 2013 Jul;109(3):282-8. doi: 10.1016/j.ymgme.2013.04.016. Epub 2013 Apr 30.

PubMed [citation]
PMID:
23688511

Efficacy of anti-sclerostin monoclonal antibody BPS804 in adult patients with hypophosphatasia.

Seefried L, Baumann J, Hemsley S, Hofmann C, Kunstmann E, Kiese B, Huang Y, Chivers S, Valentin MA, Borah B, Roubenoff R, Junker U, Jakob F.

J Clin Invest. 2017 Jun 1;127(6):2148-2158. doi: 10.1172/JCI83731. Epub 2017 Apr 24.

PubMed [citation]
PMID:
28436937
PMCID:
PMC5451251
See all PubMed Citations (6)

Details of each submission

From Counsyl, SCV000221154.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (6)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 17, 2021

Support Center