Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28964 | 87115;87116;87117 | chr2:178558569;178558568;178558567 | chr2:179423296;179423295;179423294 |
| N2AB | 27323 | 82192;82193;82194 | chr2:178558569;178558568;178558567 | chr2:179423296;179423295;179423294 |
| N2A | 26396 | 79411;79412;79413 | chr2:178558569;178558568;178558567 | chr2:179423296;179423295;179423294 |
| N2B | 19899 | 59920;59921;59922 | chr2:178558569;178558568;178558567 | chr2:179423296;179423295;179423294 |
| Novex-1 | 20024 | 60295;60296;60297 | chr2:178558569;178558568;178558567 | chr2:179423296;179423295;179423294 |
| Novex-2 | 20091 | 60496;60497;60498 | chr2:178558569;178558568;178558567 | chr2:179423296;179423295;179423294 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | rs781089608  |
-0.942 | 0.984 | N | 0.732 | 0.294 | 0.511220899679 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| L/P | rs781089608 |
-0.942 | 0.984 | N | 0.732 | 0.294 | 0.511220899679 | gnomAD-4.0.0 | 1.59143E-06 | None | None | None | None | N | None | 0 | 2.28645E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.1425 | likely_benign | 0.1238 | benign | -1.754 | Destabilizing | 0.132 | N | 0.329 | neutral | None | None | None | None | N |
| L/C | 0.3483 | ambiguous | 0.2967 | benign | -0.899 | Destabilizing | 0.999 | D | 0.686 | prob.neutral | None | None | None | None | N |
| L/D | 0.4587 | ambiguous | 0.4416 | ambiguous | -1.282 | Destabilizing | 0.952 | D | 0.702 | prob.neutral | None | None | None | None | N |
| L/E | 0.1935 | likely_benign | 0.1891 | benign | -1.27 | Destabilizing | 0.261 | N | 0.435 | neutral | None | None | None | None | N |
| L/F | 0.1334 | likely_benign | 0.1244 | benign | -1.22 | Destabilizing | 0.976 | D | 0.652 | neutral | None | None | None | None | N |
| L/G | 0.265 | likely_benign | 0.2351 | benign | -2.087 | Highly Destabilizing | 0.976 | D | 0.661 | neutral | None | None | None | None | N |
| L/H | 0.1474 | likely_benign | 0.1387 | benign | -1.254 | Destabilizing | 0.999 | D | 0.726 | prob.delet. | None | None | None | None | N |
| L/I | 0.0979 | likely_benign | 0.0982 | benign | -0.901 | Destabilizing | 0.851 | D | 0.522 | neutral | None | None | None | None | N |
| L/K | 0.1629 | likely_benign | 0.1509 | benign | -1.204 | Destabilizing | 0.976 | D | 0.659 | neutral | None | None | None | None | N |
| L/M | 0.0858 | likely_benign | 0.0806 | benign | -0.615 | Destabilizing | 0.64 | D | 0.441 | neutral | N | 0.475768175 | None | None | N |
| L/N | 0.1828 | likely_benign | 0.1717 | benign | -1.008 | Destabilizing | 0.988 | D | 0.733 | prob.delet. | None | None | None | None | N |
| L/P | 0.4524 | ambiguous | 0.3836 | ambiguous | -1.155 | Destabilizing | 0.984 | D | 0.732 | prob.delet. | N | 0.460241362 | None | None | N |
| L/Q | 0.0705 | likely_benign | 0.0684 | benign | -1.191 | Destabilizing | 0.968 | D | 0.736 | prob.delet. | N | 0.395112448 | None | None | N |
| L/R | 0.1441 | likely_benign | 0.1346 | benign | -0.556 | Destabilizing | 0.968 | D | 0.735 | prob.delet. | N | 0.440692809 | None | None | N |
| L/S | 0.1422 | likely_benign | 0.1237 | benign | -1.605 | Destabilizing | 0.851 | D | 0.644 | neutral | None | None | None | None | N |
| L/T | 0.1312 | likely_benign | 0.1185 | benign | -1.481 | Destabilizing | 0.919 | D | 0.628 | neutral | None | None | None | None | N |
| L/V | 0.0834 | likely_benign | 0.0819 | benign | -1.155 | Destabilizing | 0.103 | N | 0.382 | neutral | N | 0.426398147 | None | None | N |
| L/W | 0.2452 | likely_benign | 0.216 | benign | -1.314 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| L/Y | 0.2634 | likely_benign | 0.2418 | benign | -1.102 | Destabilizing | 0.988 | D | 0.702 | prob.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.