Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 21868 | 65827;65828;65829 | chr2:178583201;178583200;178583199 | chr2:179447928;179447927;179447926 |
N2AB | 20227 | 60904;60905;60906 | chr2:178583201;178583200;178583199 | chr2:179447928;179447927;179447926 |
N2A | 19300 | 58123;58124;58125 | chr2:178583201;178583200;178583199 | chr2:179447928;179447927;179447926 |
N2B | 12803 | 38632;38633;38634 | chr2:178583201;178583200;178583199 | chr2:179447928;179447927;179447926 |
Novex-1 | 12928 | 39007;39008;39009 | chr2:178583201;178583200;178583199 | chr2:179447928;179447927;179447926 |
Novex-2 | 12995 | 39208;39209;39210 | chr2:178583201;178583200;178583199 | chr2:179447928;179447927;179447926 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A/V | None | None | 0.055 | N | 0.269 | 0.066 | 0.352910780287 | gnomAD-4.0.0 | 1.60556E-06 | None | None | None | None | N | None | 0 | 2.29811E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A/C | 0.4941 | ambiguous | 0.4453 | ambiguous | -0.759 | Destabilizing | 0.864 | D | 0.383 | neutral | None | None | None | None | N |
A/D | 0.1736 | likely_benign | 0.1547 | benign | -0.277 | Destabilizing | None | N | 0.287 | neutral | N | 0.439546376 | None | None | N |
A/E | 0.1175 | likely_benign | 0.1139 | benign | -0.42 | Destabilizing | None | N | 0.19 | neutral | None | None | None | None | N |
A/F | 0.392 | ambiguous | 0.34 | ambiguous | -0.786 | Destabilizing | 0.628 | D | 0.473 | neutral | None | None | None | None | N |
A/G | 0.1332 | likely_benign | 0.1246 | benign | -0.253 | Destabilizing | None | N | 0.125 | neutral | N | 0.470216 | None | None | N |
A/H | 0.3333 | likely_benign | 0.3028 | benign | -0.293 | Destabilizing | 0.356 | N | 0.466 | neutral | None | None | None | None | N |
A/I | 0.2515 | likely_benign | 0.2237 | benign | -0.239 | Destabilizing | 0.136 | N | 0.486 | neutral | None | None | None | None | N |
A/K | 0.2897 | likely_benign | 0.2588 | benign | -0.554 | Destabilizing | None | N | 0.207 | neutral | None | None | None | None | N |
A/L | 0.1803 | likely_benign | 0.1635 | benign | -0.239 | Destabilizing | 0.031 | N | 0.39 | neutral | None | None | None | None | N |
A/M | 0.2248 | likely_benign | 0.2073 | benign | -0.378 | Destabilizing | 0.628 | D | 0.396 | neutral | None | None | None | None | N |
A/N | 0.1658 | likely_benign | 0.151 | benign | -0.238 | Destabilizing | None | N | 0.281 | neutral | None | None | None | None | N |
A/P | 0.1652 | likely_benign | 0.1526 | benign | -0.191 | Destabilizing | 0.106 | N | 0.405 | neutral | N | 0.43277512 | None | None | N |
A/Q | 0.1853 | likely_benign | 0.1743 | benign | -0.478 | Destabilizing | 0.001 | N | 0.233 | neutral | None | None | None | None | N |
A/R | 0.331 | likely_benign | 0.297 | benign | -0.143 | Destabilizing | 0.038 | N | 0.395 | neutral | None | None | None | None | N |
A/S | 0.082 | likely_benign | 0.0777 | benign | -0.468 | Destabilizing | None | N | 0.087 | neutral | N | 0.416378728 | None | None | N |
A/T | 0.0742 | likely_benign | 0.0709 | benign | -0.523 | Destabilizing | 0.012 | N | 0.237 | neutral | N | 0.428425306 | None | None | N |
A/V | 0.1283 | likely_benign | 0.1202 | benign | -0.191 | Destabilizing | 0.055 | N | 0.269 | neutral | N | 0.458652212 | None | None | N |
A/W | 0.7017 | likely_pathogenic | 0.6633 | pathogenic | -0.942 | Destabilizing | 0.864 | D | 0.492 | neutral | None | None | None | None | N |
A/Y | 0.4459 | ambiguous | 0.4054 | ambiguous | -0.582 | Destabilizing | 0.628 | D | 0.483 | 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.