Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29405 | 88438;88439;88440 | chr2:178556941;178556940;178556939 | chr2:179421668;179421667;179421666 |
| N2AB | 27764 | 83515;83516;83517 | chr2:178556941;178556940;178556939 | chr2:179421668;179421667;179421666 |
| N2A | 26837 | 80734;80735;80736 | chr2:178556941;178556940;178556939 | chr2:179421668;179421667;179421666 |
| N2B | 20340 | 61243;61244;61245 | chr2:178556941;178556940;178556939 | chr2:179421668;179421667;179421666 |
| Novex-1 | 20465 | 61618;61619;61620 | chr2:178556941;178556940;178556939 | chr2:179421668;179421667;179421666 |
| Novex-2 | 20532 | 61819;61820;61821 | chr2:178556941;178556940;178556939 | chr2:179421668;179421667;179421666 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/L | rs777999009  |
None | 0.425 | N | 0.403 | 0.168 | 0.432154444652 | gnomAD-4.0.0 | 6.84214E-07 | None | None | None | None | N | None | 2.98721E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs777999009 |
-0.442 | 0.006 | N | 0.145 | 0.109 | 0.128392430309 | gnomAD-2.1.1 | 4.83E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.59501E-04 | None | 0 | 0 | 0 |
| Q/R | rs777999009 |
-0.442 | 0.006 | N | 0.145 | 0.109 | 0.128392430309 | gnomAD-4.0.0 | 2.05264E-05 | None | None | None | None | N | None | 0 | 2.23594E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 3.24615E-04 | 1.65656E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2184 | likely_benign | 0.1933 | benign | -0.702 | Destabilizing | 0.176 | N | 0.289 | neutral | None | None | None | None | N |
| Q/C | 0.5972 | likely_pathogenic | 0.5474 | ambiguous | -0.046 | Destabilizing | 0.995 | D | 0.507 | neutral | None | None | None | None | N |
| Q/D | 0.5029 | ambiguous | 0.4436 | ambiguous | -0.51 | Destabilizing | 0.495 | N | 0.359 | neutral | None | None | None | None | N |
| Q/E | 0.1052 | likely_benign | 0.0924 | benign | -0.395 | Destabilizing | 0.27 | N | 0.277 | neutral | N | 0.38597289 | None | None | N |
| Q/F | 0.7651 | likely_pathogenic | 0.7103 | pathogenic | -0.287 | Destabilizing | 0.981 | D | 0.513 | neutral | None | None | None | None | N |
| Q/G | 0.3555 | ambiguous | 0.3078 | benign | -1.078 | Destabilizing | 0.495 | N | 0.403 | neutral | None | None | None | None | N |
| Q/H | 0.265 | likely_benign | 0.2231 | benign | -0.846 | Destabilizing | 0.927 | D | 0.473 | neutral | N | 0.520020384 | None | None | N |
| Q/I | 0.3928 | ambiguous | 0.3446 | ambiguous | 0.267 | Stabilizing | 0.704 | D | 0.564 | neutral | None | None | None | None | N |
| Q/K | 0.0968 | likely_benign | 0.084 | benign | -0.379 | Destabilizing | 0.002 | N | 0.143 | neutral | N | 0.396093883 | None | None | N |
| Q/L | 0.1698 | likely_benign | 0.1529 | benign | 0.267 | Stabilizing | 0.425 | N | 0.403 | neutral | N | 0.496066089 | None | None | N |
| Q/M | 0.3735 | ambiguous | 0.3499 | ambiguous | 0.659 | Stabilizing | 0.981 | D | 0.479 | neutral | None | None | None | None | N |
| Q/N | 0.3657 | ambiguous | 0.3273 | benign | -0.926 | Destabilizing | 0.704 | D | 0.357 | neutral | None | None | None | None | N |
| Q/P | 0.1867 | likely_benign | 0.1569 | benign | -0.025 | Destabilizing | 0.784 | D | 0.525 | neutral | N | 0.482059429 | None | None | N |
| Q/R | 0.1081 | likely_benign | 0.091 | benign | -0.335 | Destabilizing | 0.006 | N | 0.145 | neutral | N | 0.407273669 | None | None | N |
| Q/S | 0.2475 | likely_benign | 0.2277 | benign | -1.064 | Destabilizing | 0.037 | N | 0.133 | neutral | None | None | None | None | N |
| Q/T | 0.1867 | likely_benign | 0.1644 | benign | -0.751 | Destabilizing | 0.013 | N | 0.21 | neutral | None | None | None | None | N |
| Q/V | 0.2498 | likely_benign | 0.2208 | benign | -0.025 | Destabilizing | 0.704 | D | 0.467 | neutral | None | None | None | None | N |
| Q/W | 0.6882 | likely_pathogenic | 0.6013 | pathogenic | -0.15 | Destabilizing | 0.995 | D | 0.517 | neutral | None | None | None | None | N |
| Q/Y | 0.5655 | likely_pathogenic | 0.5055 | ambiguous | 0.063 | Stabilizing | 0.981 | D | 0.553 | 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.