Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35491 | 106696;106697;106698 | chr2:178530020;178530019;178530018 | chr2:179394747;179394746;179394745 |
| N2AB | 33850 | 101773;101774;101775 | chr2:178530020;178530019;178530018 | chr2:179394747;179394746;179394745 |
| N2A | 32923 | 98992;98993;98994 | chr2:178530020;178530019;178530018 | chr2:179394747;179394746;179394745 |
| N2B | 26426 | 79501;79502;79503 | chr2:178530020;178530019;178530018 | chr2:179394747;179394746;179394745 |
| Novex-1 | 26551 | 79876;79877;79878 | chr2:178530020;178530019;178530018 | chr2:179394747;179394746;179394745 |
| Novex-2 | 26618 | 80077;80078;80079 | chr2:178530020;178530019;178530018 | chr2:179394747;179394746;179394745 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs1461069852  |
-0.42 | 0.005 | N | 0.461 | 0.027 | 0.132336055621 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| T/I | rs1461069852 |
-0.42 | 0.005 | N | 0.461 | 0.027 | 0.132336055621 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs1461069852 |
-0.42 | 0.005 | N | 0.461 | 0.027 | 0.132336055621 | gnomAD-4.0.0 | 6.57091E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 0 | 0 |
| T/N | rs1461069852 |
None | None | N | 0.217 | 0.077 | 0.128392430309 | gnomAD-4.0.0 | 1.60283E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86615E-06 | 0 | 0 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0966 | likely_benign | 0.1097 | benign | -1.394 | Destabilizing | None | N | 0.151 | neutral | N | 0.463951455 | None | None | N |
| T/C | 0.5345 | ambiguous | 0.565 | pathogenic | -1.162 | Destabilizing | 0.177 | N | 0.572 | neutral | None | None | None | None | N |
| T/D | 0.4405 | ambiguous | 0.5003 | ambiguous | -1.169 | Destabilizing | 0.006 | N | 0.481 | neutral | None | None | None | None | N |
| T/E | 0.3233 | likely_benign | 0.3623 | ambiguous | -1.03 | Destabilizing | 0.006 | N | 0.47 | neutral | None | None | None | None | N |
| T/F | 0.2408 | likely_benign | 0.2714 | benign | -1.477 | Destabilizing | 0.096 | N | 0.606 | neutral | None | None | None | None | N |
| T/G | 0.3219 | likely_benign | 0.3635 | ambiguous | -1.719 | Destabilizing | 0.006 | N | 0.505 | neutral | None | None | None | None | N |
| T/H | 0.2616 | likely_benign | 0.2822 | benign | -1.854 | Destabilizing | 0.096 | N | 0.575 | neutral | None | None | None | None | N |
| T/I | 0.1458 | likely_benign | 0.1636 | benign | -0.564 | Destabilizing | 0.005 | N | 0.461 | neutral | N | 0.511045823 | None | None | N |
| T/K | 0.2376 | likely_benign | 0.2573 | benign | -0.483 | Destabilizing | None | N | 0.331 | neutral | None | None | None | None | N |
| T/L | 0.1121 | likely_benign | 0.1297 | benign | -0.564 | Destabilizing | 0.001 | N | 0.449 | neutral | None | None | None | None | N |
| T/M | 0.1079 | likely_benign | 0.1171 | benign | -0.387 | Destabilizing | 0.001 | N | 0.449 | neutral | None | None | None | None | N |
| T/N | 0.1431 | likely_benign | 0.1623 | benign | -0.979 | Destabilizing | None | N | 0.217 | neutral | N | 0.477802976 | None | None | N |
| T/P | 0.6823 | likely_pathogenic | 0.7465 | pathogenic | -0.813 | Destabilizing | 0.022 | N | 0.539 | neutral | N | 0.504554511 | None | None | N |
| T/Q | 0.2345 | likely_benign | 0.2561 | benign | -0.981 | Destabilizing | 0.029 | N | 0.541 | neutral | None | None | None | None | N |
| T/R | 0.1738 | likely_benign | 0.19 | benign | -0.507 | Destabilizing | 0.015 | N | 0.515 | neutral | None | None | None | None | N |
| T/S | 0.1145 | likely_benign | 0.1253 | benign | -1.318 | Destabilizing | None | N | 0.224 | neutral | N | 0.48691817 | None | None | N |
| T/V | 0.1402 | likely_benign | 0.1561 | benign | -0.813 | Destabilizing | None | N | 0.222 | neutral | None | None | None | None | N |
| T/W | 0.6722 | likely_pathogenic | 0.711 | pathogenic | -1.434 | Destabilizing | 0.712 | D | 0.602 | neutral | None | None | None | None | N |
| T/Y | 0.2931 | likely_benign | 0.3246 | benign | -1.104 | Destabilizing | 0.177 | N | 0.609 | 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.