TMEM229A

transmembrane protein 229A

Basic information

Region (hg38): 7:124030921-124033067

Links

ENSG00000234224 ∙ NCBI:730130 ∙ ∙ HGNC:37279 ∙ Uniprot:B2RXF0 ∙ 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 TMEM229A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TMEM229A 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			20			20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	20	0	0

Variants in TMEM229A

This is a list of pathogenic ClinVar variants found in the TMEM229A region.

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

Position	Type	Phenotype	Significance	ClinVar
7-124031872-G-C		not specified	Uncertain significance (Aug 15, 2023)
7-124031896-C-T		not specified	Uncertain significance (Dec 13, 2023)
7-124031908-G-C		not specified	Uncertain significance (Apr 07, 2022)
7-124031968-T-C		not specified	Uncertain significance (May 20, 2024)
7-124032040-G-C		not specified	Uncertain significance (Feb 21, 2024)
7-124032091-C-T		not specified	Uncertain significance (Feb 05, 2024)
7-124032112-G-A		not specified	Uncertain significance (Jan 17, 2024)
7-124032157-T-C		not specified	Uncertain significance (Jan 23, 2023)
7-124032214-C-A		not specified	Likely benign (Apr 09, 2024)
7-124032268-A-G		not specified	Uncertain significance (Dec 01, 2022)
7-124032328-C-T		not specified	Uncertain significance (Apr 18, 2024)
7-124032342-C-A		not specified	Uncertain significance (Nov 06, 2023)
7-124032375-C-T		not specified	Uncertain significance (Dec 01, 2022)
7-124032426-T-G		not specified	Uncertain significance (May 04, 2022)
7-124032428-C-G		not specified	Uncertain significance (Jul 16, 2021)
7-124032457-C-T		not specified	Uncertain significance (Feb 09, 2023)
7-124032475-A-C		not specified	Uncertain significance (Apr 08, 2024)
7-124032565-C-G		not specified	Uncertain significance (May 24, 2024)
7-124032612-C-G		not specified	Uncertain significance (Feb 10, 2022)
7-124032637-G-A		not specified	Uncertain significance (Apr 29, 2024)
7-124032643-T-C		not specified	Uncertain significance (Jan 29, 2024)
7-124032652-A-C		not specified	Uncertain significance (Aug 02, 2022)
7-124032799-C-T		not specified	Uncertain significance (Dec 23, 2023)
7-124032814-C-G		not specified	Uncertain significance (May 24, 2024)
7-124032860-G-C		not specified	Uncertain significance (Oct 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TMEM229A	protein_coding	protein_coding	ENST00000455783	1	2551

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.590	0.409	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.890	156	191	0.819	0.00000879	2409
Missense in Polyphen		61	81.484	0.74861		1032
Synonymous	0.0924	90	91.1	0.988	0.00000433	857
Loss of Function	2.57	2	11.3	0.176	4.99e-7	103

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.43

Haploinsufficiency Scores

• ghis: 0.595

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tmem229a

Gene ontology

• Cellular component: integral component of membrane