Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33702 | 101329;101330;101331 | chr2:178535511;178535510;178535509 | chr2:179400238;179400237;179400236 |
| N2AB | 32061 | 96406;96407;96408 | chr2:178535511;178535510;178535509 | chr2:179400238;179400237;179400236 |
| N2A | 31134 | 93625;93626;93627 | chr2:178535511;178535510;178535509 | chr2:179400238;179400237;179400236 |
| N2B | 24637 | 74134;74135;74136 | chr2:178535511;178535510;178535509 | chr2:179400238;179400237;179400236 |
| Novex-1 | 24762 | 74509;74510;74511 | chr2:178535511;178535510;178535509 | chr2:179400238;179400237;179400236 |
| Novex-2 | 24829 | 74710;74711;74712 | chr2:178535511;178535510;178535509 | chr2:179400238;179400237;179400236 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs751545599  |
-0.562 | 0.932 | N | 0.448 | 0.4 | 0.277730125212 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| S/P | rs751545599 |
-0.562 | 0.932 | N | 0.448 | 0.4 | 0.277730125212 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85801E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1558 | likely_benign | 0.15 | benign | -0.665 | Destabilizing | None | N | 0.126 | neutral | N | 0.481739716 | None | None | N |
| S/C | 0.2292 | likely_benign | 0.2267 | benign | -0.431 | Destabilizing | 0.999 | D | 0.47 | neutral | None | None | None | None | N |
| S/D | 0.806 | likely_pathogenic | 0.7798 | pathogenic | -0.188 | Destabilizing | 0.838 | D | 0.409 | neutral | None | None | None | None | N |
| S/E | 0.8854 | likely_pathogenic | 0.8481 | pathogenic | -0.243 | Destabilizing | 0.781 | D | 0.419 | neutral | None | None | None | None | N |
| S/F | 0.6002 | likely_pathogenic | 0.4793 | ambiguous | -1.081 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| S/G | 0.1253 | likely_benign | 0.1407 | benign | -0.841 | Destabilizing | 0.494 | N | 0.461 | neutral | None | None | None | None | N |
| S/H | 0.7409 | likely_pathogenic | 0.6716 | pathogenic | -1.375 | Destabilizing | 0.999 | D | 0.47 | neutral | None | None | None | None | N |
| S/I | 0.6869 | likely_pathogenic | 0.5739 | pathogenic | -0.317 | Destabilizing | 0.997 | D | 0.537 | neutral | None | None | None | None | N |
| S/K | 0.9446 | likely_pathogenic | 0.9124 | pathogenic | -0.662 | Destabilizing | 0.997 | D | 0.427 | neutral | None | None | None | None | N |
| S/L | 0.2695 | likely_benign | 0.2136 | benign | -0.317 | Destabilizing | 0.975 | D | 0.491 | neutral | N | 0.505155293 | None | None | N |
| S/M | 0.4779 | ambiguous | 0.4173 | ambiguous | 0.117 | Stabilizing | 1.0 | D | 0.473 | neutral | None | None | None | None | N |
| S/N | 0.3767 | ambiguous | 0.3332 | benign | -0.504 | Destabilizing | 0.377 | N | 0.456 | neutral | None | None | None | None | N |
| S/P | 0.9631 | likely_pathogenic | 0.9322 | pathogenic | -0.402 | Destabilizing | 0.932 | D | 0.448 | neutral | N | 0.494332702 | None | None | N |
| S/Q | 0.8183 | likely_pathogenic | 0.7595 | pathogenic | -0.776 | Destabilizing | 0.985 | D | 0.42 | neutral | None | None | None | None | N |
| S/R | 0.9155 | likely_pathogenic | 0.8598 | pathogenic | -0.458 | Destabilizing | 0.999 | D | 0.456 | neutral | None | None | None | None | N |
| S/T | 0.1252 | likely_benign | 0.1139 | benign | -0.592 | Destabilizing | None | N | 0.277 | neutral | N | 0.391576284 | None | None | N |
| S/V | 0.612 | likely_pathogenic | 0.5117 | ambiguous | -0.402 | Destabilizing | 0.951 | D | 0.485 | neutral | None | None | None | None | N |
| S/W | 0.8181 | likely_pathogenic | 0.7363 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| S/Y | 0.6076 | likely_pathogenic | 0.5008 | ambiguous | -0.769 | Destabilizing | 0.998 | D | 0.559 | 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.