{{Rsnum
|rsid=421016
|Gene=GBAP1
|geno1=(T;T)
|geno2=(C;T)
|geno3=(C;C)
|Orientation=plus
|Chromosome=1
|position=155205043
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=GBA
}}Observed in the data from [[User:David Ewing Duncan]] This position of the genome may have experienced strand changes between build 36 and 37 during 2011?

[[rs421016]], also known as L444P or Leu444Pro, is a SNP causing an amino acid change in the [[GBA]] gene; it is the most common mutation associated with [[Gaucher disease]] types II and III. {{PMID|3353383|OA=1
}} Amino acid predictions from genome sequence may predict this as L483P or Leu483Pro, this disparity in position calling may be due to a 39 peptide signal sequence. Polyphen 2 predicts  P04062 L483P to be "possibly damaging" with a score of 0.857 (sensitivity: 0.83; specificity: 0.93). ([http://www.uniprot.org/uniprot/P04062 P04062] is the uniprot ID for GBA.)

The risk allele (in dbSNP orientation) is (T), and as the inheritance is autosomal recessive, in general only individuals with [[rs421016]](T,T) (homozygous) genotypes develop the disease as associated with this SNP. However, there are over 300 mutations now known to occur in the [[GBA]] gene, with many associated with increasing risk for either type I, II, or III Gaucher disease.

This SNP (along with others associated with [[Gaucher disease]]) is studied extensively in [[Ashkenazi]] Jewish populations where it is found in relatively high frequency.

Note: this SNP has a "mirror" SNP, [[rs35095275]], representing the opposite strand yet the same exact nucleotide position. In the future, dbSNP is likely to merge these two SNPs into a single entry.

One copy of [[rs421016]](T) has also been shown to increase the risk of Parkinson's disease ~5 fold across multiple ethnicities.{{PMID|19846850|OA=1
}}

{{omim
|id=606463
|rsnum=421016
|variant=0001
}}

{{omim
|id=606463
|rsnum=421016
|variant=0009
}}

{{ClinVar
|rsid=421016
|Reversed=0
|FwdREF=A
|FwdALT=G
|REF=A
|ALT=G
|RSPOS=155235252
|CHROM=1
|dbSNPBuildID=80
|SSR=0
|SAO=1
|VP=0x050368000a05040502110100
|GENEINFO=GBA:2629
|GENE_NAME=GBA
|GENE_ID=2629
|WGT=1
|VC=SNV
|CLNALLE=-1; 1
|CLNHGVS=NC_000001.11:g.155235252A>C; NC_000001.11:g.155235252A>G
|CLNSRC=ClinVar; Emory University; GTR; GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NM_001005741.2:c.1448T>G; 835; NM_001005741.2:c.1448T>C; 790; GTR000334177; GTR000501121; NBK1269; 606463.0001; 606463.0009
|CLNSIG=255
|CLNCUI=C0268250; C0268251; C1961835; C0017205
|CLNDBN=not provided; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher's disease, type 1; Parkinson disease, late-onset, susceptibility to; Dementia, Lewy body, susceptibility to; Gaucher disease, perinatal lethal; Gaucher disease
|Disease=not provided; Acute neuronopathic Gaucher's disease; Subacute neuronopathic Gaucher's disease; Gaucher's disease; Parkinson disease; Dementia; Gaucher disease; Gaucher disease
|CLNACC=RCV000079340.1; RCV000004509.6; RCV000004510.6; RCV000004511.6; RCV000004512.6; RCV000004513.6; RCV000004533.3; RCV000004534.3; RCV000004535.3; RCV000004536.3; RCV000020150.1; RCV000079339.1
|Tags=PM;PMC;S3D;SLO;NSM;REF;ASP;VLD;HD;GNO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:SNOMED_CT; GeneReviews:MedGen:OMIM:Orphanet:Orphanet:SNOMED_CT; GeneReviews:MedGen:OMIM; GeneReviews:MedGen
|CLNDSDBID=NBK1269:C0268250:230900:12246008; NBK1269:C0268251:231000:ORPHA355:ORPHA77261:5963005; NBK1269:C1961835:230800:ORPHA355:ORPHA77259:62201009; NBK1269:C1842704:608013; NBK1269:C0017205
}}

{{PMID|2309702|OA=1
}} Genotype assignment in Gaucher disease by selective amplification of the active glucocerebrosidase gene.

{{PMID|2349952|OA=1
}} Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

{{PMID|2464926|OA=1
}} Characterization of mutations in Gaucher patients by cDNA cloning.

{{PMID|2880291}} A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease.

{{on chip | 23andMe v3}}
{{on chip | HumanOmni1Quad}}