Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 238 | 937;938;939 | chr2:178799689;178799688;178799687 | chr2:179664416;179664415;179664414 |
N2AB | 238 | 937;938;939 | chr2:178799689;178799688;178799687 | chr2:179664416;179664415;179664414 |
N2A | 238 | 937;938;939 | chr2:178799689;178799688;178799687 | chr2:179664416;179664415;179664414 |
N2B | 238 | 937;938;939 | chr2:178799689;178799688;178799687 | chr2:179664416;179664415;179664414 |
Novex-1 | 238 | 937;938;939 | chr2:178799689;178799688;178799687 | chr2:179664416;179664415;179664414 |
Novex-2 | 238 | 937;938;939 | chr2:178799689;178799688;178799687 | chr2:179664416;179664415;179664414 |
Novex-3 | 238 | 937;938;939 | chr2:178799689;178799688;178799687 | chr2:179664416;179664415;179664414 |
SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/Q | None | None | None | N | None | 0.218 | None | Peddareddygari (2022) | None | LGMD | comp het with Q466R (in cis) | None | None | Segregation analysis in single LGMD family, co-segregates with condition in affected mother and son, absent in unaffected son, co-inherited with Q466R | None | None | None | None | None | None | None | None | None | None | None |
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.6201 | likely_pathogenic | 0.5855 | pathogenic | None | None | None | None | None | None | N | 0.500310934 | None | None | |
E/C | 0.9894 | likely_pathogenic | 0.9865 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/D | 0.5897 | likely_pathogenic | 0.4775 | ambiguous | None | None | None | None | None | None | N | 0.502277555 | None | None | |
E/F | 0.9887 | likely_pathogenic | 0.9864 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/G | 0.6297 | likely_pathogenic | 0.6063 | pathogenic | None | None | None | None | None | None | N | 0.503939783 | None | None | |
E/H | 0.9257 | likely_pathogenic | 0.9053 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/I | 0.9476 | likely_pathogenic | 0.9405 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/K | 0.6494 | likely_pathogenic | 0.6372 | pathogenic | None | None | None | None | None | None | N | 0.497589039 | None | None | |
E/L | 0.9437 | likely_pathogenic | 0.9331 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/M | 0.9387 | likely_pathogenic | 0.9247 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/N | 0.8372 | likely_pathogenic | 0.7846 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/P | 0.9538 | likely_pathogenic | 0.9236 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/Q | 0.4499 | ambiguous | 0.3966 | ambiguous | None | None | None | None | None | None | N | 0.503652051 | None | None | |
E/R | 0.7581 | likely_pathogenic | 0.7391 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/S | 0.702 | likely_pathogenic | 0.6425 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/T | 0.7808 | likely_pathogenic | 0.7383 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/V | 0.8323 | likely_pathogenic | 0.81 | pathogenic | None | None | None | None | None | None | N | 0.503184312 | None | None | |
E/W | 0.9958 | likely_pathogenic | 0.995 | pathogenic | None | None | None | None | None | None | None | None | None | None | |
E/Y | 0.979 | likely_pathogenic | 0.9751 | pathogenic | None | None | None | None | None | None | None | None | None | None |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.