SLC4A1AP

solute carrier family 4 member 1 adaptor protein

Basic information

Region (hg38): 2:27663425-27695366

Links

ENSG00000163798 ∙ NCBI:22950 ∙ OMIM:602655 ∙ HGNC:13813 ∙ Uniprot:Q9BWU0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC4A1AP gene.

• Inborn genetic diseases (29 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC4A1AP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			25	1		26
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			3			3
Total	0	0	28	1	0

Variants in SLC4A1AP

This is a list of pathogenic ClinVar variants found in the SLC4A1AP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
2-27663834-G-A		not specified	Uncertain significance (Sep 14, 2023)
2-27663838-A-C		not specified	Uncertain significance (Nov 17, 2022)
2-27663858-G-C		not specified	Uncertain significance (Jun 21, 2022)
2-27663918-G-C		not specified	Uncertain significance (Jan 03, 2024)
2-27663931-C-G		not specified	Uncertain significance (Dec 06, 2021)
2-27663963-A-T		not specified	Uncertain significance (Oct 17, 2023)
2-27663997-C-T		not specified	Uncertain significance (Jan 30, 2024)
2-27664002-G-A		not specified	Uncertain significance (Feb 10, 2022)
2-27664003-C-A		not specified	Uncertain significance (Feb 10, 2022)
2-27664003-C-T		not specified	Uncertain significance (Jan 31, 2024)
2-27664012-G-A		not specified	Uncertain significance (Aug 11, 2022)
2-27664072-C-A		not specified	Uncertain significance (Nov 09, 2021)
2-27664087-A-G		not specified	Likely benign (Mar 25, 2022)
2-27664110-C-T		not specified	Uncertain significance (Dec 13, 2022)
2-27664147-A-G		not specified	Uncertain significance (Jun 22, 2023)
2-27664176-G-T		not specified	Uncertain significance (Feb 28, 2023)
2-27664209-C-G		not specified	Uncertain significance (Dec 15, 2022)
2-27664293-C-G		not specified	Uncertain significance (Oct 17, 2023)
2-27664377-T-C		not specified	Uncertain significance (Jul 12, 2022)
2-27664419-G-A		not specified	Uncertain significance (Jan 23, 2024)
2-27664543-G-A		not specified	Uncertain significance (Dec 27, 2023)
2-27664546-T-C		not specified	Uncertain significance (Dec 19, 2022)
2-27665145-C-G		not specified	Uncertain significance (Mar 31, 2023)
2-27665190-A-G		not specified	Uncertain significance (Dec 19, 2022)
2-27667316-A-C		not specified	Uncertain significance (Feb 02, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC4A1AP	protein_coding	protein_coding	ENST00000326019	14	31503

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.67e-10	0.995	125658	0	90	125748	0.000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.250	401	415	0.965	0.0000200	5197
Missense in Polyphen		73	99.499	0.73368		1181
Synonymous	-1.04	172	155	1.11	0.00000751	1513
Loss of Function	2.60	21	38.4	0.547	0.00000180	509

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000422	0.000420
Ashkenazi Jewish	0.00	0.00
East Asian	0.000707	0.000707
Finnish	0.000324	0.000323
European (Non-Finnish)	0.000469	0.000466
Middle Eastern	0.000707	0.000707
South Asian	0.000204	0.000196
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0923

Intolerance Scores

• loftool: 0.823
• rvis_EVS: -0.44
• rvis_percentile_EVS: 24.53

Haploinsufficiency Scores

• pHI: 0.0999
• hipred: N
• hipred_score: 0.237
• ghis: 0.576

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.971

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Slc4a1ap

Gene ontology

• Cellular component: nucleoplasm;cytoplasm;plasma membrane;intracellular membrane-bounded organelle
• Molecular function: mRNA binding;protein binding