Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 21978 | 66157;66158;66159 | chr2:178582524;178582523;178582522 | chr2:179447251;179447250;179447249 |
N2AB | 20337 | 61234;61235;61236 | chr2:178582524;178582523;178582522 | chr2:179447251;179447250;179447249 |
N2A | 19410 | 58453;58454;58455 | chr2:178582524;178582523;178582522 | chr2:179447251;179447250;179447249 |
N2B | 12913 | 38962;38963;38964 | chr2:178582524;178582523;178582522 | chr2:179447251;179447250;179447249 |
Novex-1 | 13038 | 39337;39338;39339 | chr2:178582524;178582523;178582522 | chr2:179447251;179447250;179447249 |
Novex-2 | 13105 | 39538;39539;39540 | chr2:178582524;178582523;178582522 | chr2:179447251;179447250;179447249 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/K | None | None | 0.014 | N | 0.277 | 0.262 | 0.180583059064 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.1901 | likely_benign | 0.1764 | benign | -0.697 | Destabilizing | 0.698 | D | 0.581 | neutral | N | 0.507592591 | None | None | N |
E/C | 0.8575 | likely_pathogenic | 0.8174 | pathogenic | -0.152 | Destabilizing | 0.998 | D | 0.782 | deleterious | None | None | None | None | N |
E/D | 0.1411 | likely_benign | 0.1278 | benign | -0.713 | Destabilizing | 0.006 | N | 0.119 | neutral | N | 0.49972247 | None | None | N |
E/F | 0.7805 | likely_pathogenic | 0.7413 | pathogenic | -0.549 | Destabilizing | 0.993 | D | 0.757 | deleterious | None | None | None | None | N |
E/G | 0.2391 | likely_benign | 0.2163 | benign | -0.968 | Destabilizing | 0.822 | D | 0.611 | neutral | D | 0.522831403 | None | None | N |
E/H | 0.5614 | ambiguous | 0.4994 | ambiguous | -0.691 | Destabilizing | 0.978 | D | 0.585 | neutral | None | None | None | None | N |
E/I | 0.3728 | ambiguous | 0.3622 | ambiguous | 0.011 | Stabilizing | 0.978 | D | 0.759 | deleterious | None | None | None | None | N |
E/K | 0.257 | likely_benign | 0.2246 | benign | -0.201 | Destabilizing | 0.014 | N | 0.277 | neutral | N | 0.428379659 | None | None | N |
E/L | 0.3485 | ambiguous | 0.3198 | benign | 0.011 | Stabilizing | 0.956 | D | 0.681 | prob.neutral | None | None | None | None | N |
E/M | 0.429 | ambiguous | 0.4069 | ambiguous | 0.393 | Stabilizing | 0.998 | D | 0.741 | deleterious | None | None | None | None | N |
E/N | 0.2401 | likely_benign | 0.2112 | benign | -0.476 | Destabilizing | 0.754 | D | 0.538 | neutral | None | None | None | None | N |
E/P | 0.9576 | likely_pathogenic | 0.9203 | pathogenic | -0.204 | Destabilizing | 0.978 | D | 0.695 | prob.neutral | None | None | None | None | N |
E/Q | 0.1553 | likely_benign | 0.1444 | benign | -0.421 | Destabilizing | 0.822 | D | 0.551 | neutral | N | 0.512921053 | None | None | N |
E/R | 0.4409 | ambiguous | 0.3856 | ambiguous | -0.016 | Destabilizing | 0.915 | D | 0.565 | neutral | None | None | None | None | N |
E/S | 0.2215 | likely_benign | 0.2046 | benign | -0.715 | Destabilizing | 0.193 | N | 0.274 | neutral | None | None | None | None | N |
E/T | 0.2353 | likely_benign | 0.2255 | benign | -0.502 | Destabilizing | 0.754 | D | 0.629 | neutral | None | None | None | None | N |
E/V | 0.2393 | likely_benign | 0.2262 | benign | -0.204 | Destabilizing | 0.942 | D | 0.7 | prob.neutral | N | 0.470131471 | None | None | N |
E/W | 0.9446 | likely_pathogenic | 0.926 | pathogenic | -0.387 | Destabilizing | 0.998 | D | 0.778 | deleterious | None | None | None | None | N |
E/Y | 0.6845 | likely_pathogenic | 0.6253 | pathogenic | -0.319 | Destabilizing | 0.993 | D | 0.757 | deleterious | 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.