Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 9598 | 29017;29018;29019 | chr2:178707775;178707774;178707773 | chr2:179572502;179572501;179572500 |
N2AB | 9281 | 28066;28067;28068 | chr2:178707775;178707774;178707773 | chr2:179572502;179572501;179572500 |
N2A | 8354 | 25285;25286;25287 | chr2:178707775;178707774;178707773 | chr2:179572502;179572501;179572500 |
N2B | None | None | chr2:None | chr2:None |
Novex-1 | None | None | chr2:None | chr2:None |
Novex-2 | None | None | chr2:None | chr2:None |
Novex-3 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/S | None | None | 0.001 | None | 0.302 | 0.127 | 0.148003135375 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
P/A | 0.0664 | likely_benign | 0.0663 | benign | -0.314 | Destabilizing | 0.001 | N | 0.35 | neutral | None | None | None | None | N |
P/C | 0.7158 | likely_pathogenic | 0.6185 | pathogenic | -0.664 | Destabilizing | 0.909 | D | 0.705 | prob.neutral | None | None | None | None | N |
P/D | 0.4423 | ambiguous | 0.4054 | ambiguous | -0.061 | Destabilizing | 0.396 | N | 0.525 | neutral | None | None | None | None | N |
P/E | 0.3385 | likely_benign | 0.3099 | benign | -0.177 | Destabilizing | 0.157 | N | 0.511 | neutral | None | None | None | None | N |
P/F | 0.6877 | likely_pathogenic | 0.5958 | pathogenic | -0.585 | Destabilizing | 0.726 | D | 0.702 | prob.neutral | None | None | None | None | N |
P/G | 0.3136 | likely_benign | 0.2956 | benign | -0.419 | Destabilizing | 0.157 | N | 0.483 | neutral | None | None | None | None | N |
P/H | 0.3018 | likely_benign | 0.2354 | benign | -0.042 | Destabilizing | 0.909 | D | 0.672 | neutral | None | None | None | None | N |
P/I | 0.4984 | ambiguous | 0.4559 | ambiguous | -0.19 | Destabilizing | 0.567 | D | 0.694 | prob.neutral | None | None | None | None | N |
P/K | 0.4936 | ambiguous | 0.4337 | ambiguous | -0.308 | Destabilizing | 0.157 | N | 0.514 | neutral | None | None | None | None | N |
P/L | 0.1983 | likely_benign | 0.1658 | benign | -0.19 | Destabilizing | 0.331 | N | 0.594 | neutral | None | None | None | None | N |
P/M | 0.4368 | ambiguous | 0.3926 | ambiguous | -0.332 | Destabilizing | 0.968 | D | 0.673 | neutral | None | None | None | None | N |
P/N | 0.3347 | likely_benign | 0.3145 | benign | -0.096 | Destabilizing | 0.396 | N | 0.649 | neutral | None | None | None | None | N |
P/Q | 0.2116 | likely_benign | 0.1835 | benign | -0.31 | Destabilizing | 0.497 | N | 0.609 | neutral | None | None | None | None | N |
P/R | 0.3199 | likely_benign | 0.2419 | benign | 0.14 | Stabilizing | 0.497 | N | 0.677 | prob.neutral | None | None | None | None | N |
P/S | 0.1048 | likely_benign | 0.0996 | benign | -0.458 | Destabilizing | 0.001 | N | 0.302 | neutral | None | None | None | None | N |
P/T | 0.117 | likely_benign | 0.1112 | benign | -0.472 | Destabilizing | 0.124 | N | 0.489 | neutral | None | None | None | None | N |
P/V | 0.3073 | likely_benign | 0.287 | benign | -0.198 | Destabilizing | 0.396 | N | 0.543 | neutral | None | None | None | None | N |
P/W | 0.8323 | likely_pathogenic | 0.7291 | pathogenic | -0.669 | Destabilizing | 0.968 | D | 0.678 | prob.neutral | None | None | None | None | N |
P/Y | 0.6602 | likely_pathogenic | 0.5702 | pathogenic | -0.362 | Destabilizing | 0.726 | D | 0.703 | prob.neutral | None | None | None | None | N |
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.