Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 25372 | 76339;76340;76341 | chr2:178570018;178570017;178570016 | chr2:179434745;179434744;179434743 |
N2AB | 23731 | 71416;71417;71418 | chr2:178570018;178570017;178570016 | chr2:179434745;179434744;179434743 |
N2A | 22804 | 68635;68636;68637 | chr2:178570018;178570017;178570016 | chr2:179434745;179434744;179434743 |
N2B | 16307 | 49144;49145;49146 | chr2:178570018;178570017;178570016 | chr2:179434745;179434744;179434743 |
Novex-1 | 16432 | 49519;49520;49521 | chr2:178570018;178570017;178570016 | chr2:179434745;179434744;179434743 |
Novex-2 | 16499 | 49720;49721;49722 | chr2:178570018;178570017;178570016 | chr2:179434745;179434744;179434743 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/S | None | None | 0.028 | N | 0.269 | 0.091 | 0.154104182512 | gnomAD-4.0.0 | 1.36893E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99666E-07 | 1.1599E-05 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/A | 0.2525 | likely_benign | 0.2647 | benign | -0.525 | Destabilizing | 0.373 | N | 0.523 | neutral | None | None | None | None | N |
N/C | 0.276 | likely_benign | 0.3011 | benign | 0.409 | Stabilizing | 0.996 | D | 0.587 | neutral | None | None | None | None | N |
N/D | 0.112 | likely_benign | 0.106 | benign | -0.36 | Destabilizing | 0.684 | D | 0.379 | neutral | N | 0.423549843 | None | None | N |
N/E | 0.3401 | ambiguous | 0.3306 | benign | -0.35 | Destabilizing | 0.742 | D | 0.405 | neutral | None | None | None | None | N |
N/F | 0.469 | ambiguous | 0.4904 | ambiguous | -0.58 | Destabilizing | 0.91 | D | 0.593 | neutral | None | None | None | None | N |
N/G | 0.1586 | likely_benign | 0.1639 | benign | -0.78 | Destabilizing | 0.004 | N | 0.169 | neutral | None | None | None | None | N |
N/H | 0.1093 | likely_benign | 0.1039 | benign | -0.81 | Destabilizing | 0.979 | D | 0.432 | neutral | N | 0.515651927 | None | None | N |
N/I | 0.413 | ambiguous | 0.427 | ambiguous | 0.087 | Stabilizing | 0.792 | D | 0.589 | neutral | N | 0.50267945 | None | None | N |
N/K | 0.2648 | likely_benign | 0.2404 | benign | -0.25 | Destabilizing | 0.684 | D | 0.405 | neutral | N | 0.506397726 | None | None | N |
N/L | 0.3266 | likely_benign | 0.3336 | benign | 0.087 | Stabilizing | 0.59 | D | 0.542 | neutral | None | None | None | None | N |
N/M | 0.3508 | ambiguous | 0.3637 | ambiguous | 0.595 | Stabilizing | 0.373 | N | 0.549 | neutral | None | None | None | None | N |
N/P | 0.8595 | likely_pathogenic | 0.854 | pathogenic | -0.089 | Destabilizing | 0.953 | D | 0.581 | neutral | None | None | None | None | N |
N/Q | 0.2847 | likely_benign | 0.2718 | benign | -0.618 | Destabilizing | 0.953 | D | 0.411 | neutral | None | None | None | None | N |
N/R | 0.3379 | likely_benign | 0.3261 | benign | -0.21 | Destabilizing | 0.91 | D | 0.409 | neutral | None | None | None | None | N |
N/S | 0.1008 | likely_benign | 0.1079 | benign | -0.429 | Destabilizing | 0.028 | N | 0.269 | neutral | N | 0.47338123 | None | None | N |
N/T | 0.1629 | likely_benign | 0.1723 | benign | -0.273 | Destabilizing | 0.521 | D | 0.343 | neutral | D | 0.524330126 | None | None | N |
N/V | 0.408 | ambiguous | 0.4247 | ambiguous | -0.089 | Destabilizing | 0.59 | D | 0.571 | neutral | None | None | None | None | N |
N/W | 0.7046 | likely_pathogenic | 0.7266 | pathogenic | -0.496 | Destabilizing | 0.996 | D | 0.667 | neutral | None | None | None | None | N |
N/Y | 0.1597 | likely_benign | 0.1669 | benign | -0.294 | Destabilizing | 0.979 | D | 0.582 | neutral | N | 0.513670415 | 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.