Spectrin, alpha, erythrocytic 1 (SPTA1) is a gene that encodes an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton. Missense mutations, synonymous mutations, nonsense mutations, and frameshift deletions are observed in cancers such as esophageal cancer, genital tract cancer, and endometrial cancer.
SPTA1 is altered in 10.34% of all cancers with cutaneous melanoma, lung adenocarcinoma, colon adenocarcinoma, conventional glioblastoma multiforme, and breast invasive ductal carcinoma having the greatest prevalence of alterations .
The most common alterations in SPTA1 are SPTA1 Amplification (2.59%), SPTA1 R2251Q (0.19%), SPTA1 R885H (0.19%), SPTA1 E1707K (0.14%), and SPTA1 E226K (0.15%) .
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.