Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10120 | 30583;30584;30585 | chr2:178702529;178702528;178702527 | chr2:179567256;179567255;179567254 |
| N2AB | 9803 | 29632;29633;29634 | chr2:178702529;178702528;178702527 | chr2:179567256;179567255;179567254 |
| N2A | 8876 | 26851;26852;26853 | chr2:178702529;178702528;178702527 | chr2:179567256;179567255;179567254 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/G | rs1577676588  |
None | 0.104 | None | 0.243 | 0.129 | 0.0551355673512 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs1292517657 |
-0.142 | 0.999 | None | 0.495 | 0.281 | 0.227934060464 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs1292517657 |
-0.142 | 0.999 | None | 0.495 | 0.281 | 0.227934060464 | gnomAD-4.0.0 | 6.84134E-07 | None | None | None | None | N | None | 0 | 2.23594E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.5686 | likely_pathogenic | 0.5656 | pathogenic | -0.626 | Destabilizing | 0.98 | D | 0.356 | neutral | None | None | None | None | N |
| S/C | 0.6673 | likely_pathogenic | 0.629 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.531 | neutral | None | None | None | None | N |
| S/D | 0.9092 | likely_pathogenic | 0.9016 | pathogenic | 0.538 | Stabilizing | 0.996 | D | 0.432 | neutral | None | None | None | None | N |
| S/E | 0.9795 | likely_pathogenic | 0.9758 | pathogenic | 0.515 | Stabilizing | 0.999 | D | 0.432 | neutral | None | None | None | None | N |
| S/F | 0.9609 | likely_pathogenic | 0.9578 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.568 | neutral | None | None | None | None | N |
| S/G | 0.4052 | ambiguous | 0.3902 | ambiguous | -0.826 | Destabilizing | 0.104 | N | 0.243 | neutral | None | None | None | None | N |
| S/H | 0.9165 | likely_pathogenic | 0.904 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.521 | neutral | None | None | None | None | N |
| S/I | 0.958 | likely_pathogenic | 0.9602 | pathogenic | -0.209 | Destabilizing | 0.999 | D | 0.55 | neutral | None | None | None | None | N |
| S/K | 0.9953 | likely_pathogenic | 0.9939 | pathogenic | -0.359 | Destabilizing | 0.996 | D | 0.466 | neutral | None | None | None | None | N |
| S/L | 0.8522 | likely_pathogenic | 0.8664 | pathogenic | -0.209 | Destabilizing | 1.0 | D | 0.496 | neutral | None | None | None | None | N |
| S/M | 0.8958 | likely_pathogenic | 0.8992 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.53 | neutral | None | None | None | None | N |
| S/N | 0.6395 | likely_pathogenic | 0.6512 | pathogenic | -0.246 | Destabilizing | 0.994 | D | 0.457 | neutral | None | None | None | None | N |
| S/P | 0.9943 | likely_pathogenic | 0.9933 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.491 | neutral | None | None | None | None | N |
| S/Q | 0.9752 | likely_pathogenic | 0.9692 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.48 | neutral | None | None | None | None | N |
| S/R | 0.9941 | likely_pathogenic | 0.992 | pathogenic | -0.297 | Destabilizing | 0.999 | D | 0.495 | neutral | None | None | None | None | N |
| S/T | 0.3926 | ambiguous | 0.3976 | ambiguous | -0.349 | Destabilizing | 0.994 | D | 0.407 | neutral | None | None | None | None | N |
| S/V | 0.9482 | likely_pathogenic | 0.9529 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.536 | neutral | None | None | None | None | N |
| S/W | 0.9687 | likely_pathogenic | 0.9638 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| S/Y | 0.9275 | likely_pathogenic | 0.9187 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.564 | 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.