UniProtKB/SwissProt variant VAR

Transmembrane protein 114
Gene: TMEM114
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Variant information Variant position:

147
Type of variant:

LB/B
Residue change:

From Alanine (A) to Valine (V) at position 147 (A147V, p.Ala147Val).
Physico-chemical properties:

Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
BLOSUM score:

0
Other resources:

Variant rs141472774 [ dbSNP | Ensembl ]

Sequence information Variant position:

147
Protein sequence length:

223
Location on the sequence:

SFLLQAYLLLLLTGILFLFG A MVTLAGISVYIAYSAAAFRE
Residue conservation:

Human                         SFLLQAYLLLLLTGILFLFGAMVTLAGISVYIAYSAAAFRE

Mouse                         SFLLRAHLLLLLTGILFLFGAMVTLTGISIYIAYSAVAFRE

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 223	Transmembrane protein 114
Transmembrane	134 – 154	Helical

Literature citations
Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
Jamieson R.V.; Farrar N.; Stewart K.; Perveen R.; Mihelec M.; Carette M.; Grigg J.R.; McAvoy J.W.; Lovicu F.J.; Tam P.P.L.; Scambler P.; Lloyd I.C.; Donnai D.; Black G.C.M.;
Hum. Mutat. 28:968-977(2007)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-73; VARIANTS THR-35; VAL-147 AND LEU-206; CHROMOSOMAL TRANSLOCATION;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot B3SHH9: Variant p.Ala147Val