Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32919 | 98980;98981;98982 | chr2:178539180;178539179;178539178 | chr2:179403907;179403906;179403905 |
| N2AB | 31278 | 94057;94058;94059 | chr2:178539180;178539179;178539178 | chr2:179403907;179403906;179403905 |
| N2A | 30351 | 91276;91277;91278 | chr2:178539180;178539179;178539178 | chr2:179403907;179403906;179403905 |
| N2B | 23854 | 71785;71786;71787 | chr2:178539180;178539179;178539178 | chr2:179403907;179403906;179403905 |
| Novex-1 | 23979 | 72160;72161;72162 | chr2:178539180;178539179;178539178 | chr2:179403907;179403906;179403905 |
| Novex-2 | 24046 | 72361;72362;72363 | chr2:178539180;178539179;178539178 | chr2:179403907;179403906;179403905 |
| 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/C | None | None | 1.0 | N | 0.601 | 0.394 | 0.411665641125 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 0 | 0 |
| S/F | None | None | 0.999 | N | 0.69 | 0.405 | 0.583773441324 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-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 | 0.1057 | likely_benign | 0.0954 | benign | -0.83 | Destabilizing | 0.333 | N | 0.202 | neutral | N | 0.429017165 | None | None | I |
| S/C | 0.1582 | likely_benign | 0.1387 | benign | -0.61 | Destabilizing | 1.0 | D | 0.601 | neutral | N | 0.503053563 | None | None | I |
| S/D | 0.6563 | likely_pathogenic | 0.6083 | pathogenic | -0.436 | Destabilizing | 0.999 | D | 0.517 | neutral | None | None | None | None | I |
| S/E | 0.71 | likely_pathogenic | 0.6612 | pathogenic | -0.389 | Destabilizing | 0.996 | D | 0.505 | neutral | None | None | None | None | I |
| S/F | 0.3659 | ambiguous | 0.3302 | benign | -0.949 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | N | 0.509614176 | None | None | I |
| S/G | 0.1158 | likely_benign | 0.0995 | benign | -1.131 | Destabilizing | 0.98 | D | 0.407 | neutral | None | None | None | None | I |
| S/H | 0.5339 | ambiguous | 0.4999 | ambiguous | -1.603 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | I |
| S/I | 0.274 | likely_benign | 0.2272 | benign | -0.126 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | I |
| S/K | 0.8589 | likely_pathogenic | 0.8256 | pathogenic | -0.714 | Destabilizing | 0.996 | D | 0.507 | neutral | None | None | None | None | I |
| S/L | 0.1447 | likely_benign | 0.1248 | benign | -0.126 | Destabilizing | 0.992 | D | 0.555 | neutral | None | None | None | None | I |
| S/M | 0.273 | likely_benign | 0.221 | benign | 0.074 | Stabilizing | 1.0 | D | 0.6 | neutral | None | None | None | None | I |
| S/N | 0.1846 | likely_benign | 0.1528 | benign | -0.838 | Destabilizing | 1.0 | D | 0.543 | neutral | None | None | None | None | I |
| S/P | 0.3568 | ambiguous | 0.3916 | ambiguous | -0.325 | Destabilizing | 0.998 | D | 0.618 | neutral | N | 0.51375056 | None | None | I |
| S/Q | 0.6279 | likely_pathogenic | 0.5694 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.569 | neutral | None | None | None | None | I |
| S/R | 0.836 | likely_pathogenic | 0.8018 | pathogenic | -0.741 | Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | I |
| S/T | 0.1198 | likely_benign | 0.1018 | benign | -0.77 | Destabilizing | 0.989 | D | 0.389 | neutral | N | 0.414276999 | None | None | I |
| S/V | 0.2762 | likely_benign | 0.2295 | benign | -0.325 | Destabilizing | 0.992 | D | 0.554 | neutral | None | None | None | None | I |
| S/W | 0.5843 | likely_pathogenic | 0.5436 | ambiguous | -0.962 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| S/Y | 0.3614 | ambiguous | 0.326 | benign | -0.667 | Destabilizing | 0.999 | D | 0.69 | prob.neutral | N | 0.495068798 | None | None | I |
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.