MLANA
Chr 9melan-A
Also known as: MART-1, MART1
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.95LOEUF
pLI 0.000
Z-score -1.65
OE 1.70 (0.99–1.95)
Highly tolerant — LoF variants common in population
Missense Constraint?
-0.12Z-score
OE missense 1.04 (0.85–1.28)
67 obs / 64.3 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?1.70 (0.99–1.95)
0≤0.351.4
Missense OE?1.04 (0.85–1.28)
0≤0.61.4
Synonymous OE?1.13
0≤1.21.6
LoF obs/exp: 11 / 6.5Missense obs/exp: 67 / 64.3Syn Z: -0.52
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MLANA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools