Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27907 | 83944;83945;83946 | chr2:178562413;178562412;178562411 | chr2:179427140;179427139;179427138 |
| N2AB | 26266 | 79021;79022;79023 | chr2:178562413;178562412;178562411 | chr2:179427140;179427139;179427138 |
| N2A | 25339 | 76240;76241;76242 | chr2:178562413;178562412;178562411 | chr2:179427140;179427139;179427138 |
| N2B | 18842 | 56749;56750;56751 | chr2:178562413;178562412;178562411 | chr2:179427140;179427139;179427138 |
| Novex-1 | 18967 | 57124;57125;57126 | chr2:178562413;178562412;178562411 | chr2:179427140;179427139;179427138 |
| Novex-2 | 19034 | 57325;57326;57327 | chr2:178562413;178562412;178562411 | chr2:179427140;179427139;179427138 |
| 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/I | None | None | 1.0 | N | 0.502 | 0.474 | 0.440604514059 | gnomAD-4.0.0 | 3.42486E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49922E-06 | 0 | 0 |
| S/N | rs759630792  |
-0.11 | 0.91 | N | 0.387 | 0.162 | 0.173771789658 | gnomAD-2.1.1 | 8.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.98138E-04 | None | 0 | 0 | 0 |
| S/N | rs759630792 |
-0.11 | 0.91 | N | 0.387 | 0.162 | 0.173771789658 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.20347E-04 | 0 |
| S/N | rs759630792 |
-0.11 | 0.91 | N | 0.387 | 0.162 | 0.173771789658 | gnomAD-4.0.0 | 2.97749E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.07659E-04 | 3.20595E-05 |
| S/R | rs1306149709 |
None | 0.999 | N | 0.407 | 0.354 | 0.282575091529 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/R | rs1306149709 |
None | 0.999 | N | 0.407 | 0.354 | 0.282575091529 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/T | None | None | 0.953 | N | 0.397 | 0.121 | 0.1749357433 | gnomAD-4.0.0 | 6.84972E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99844E-07 | 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 | 0.087 | likely_benign | 0.0887 | benign | -0.301 | Destabilizing | 0.777 | D | 0.42 | neutral | None | None | None | None | N |
| S/C | 0.1246 | likely_benign | 0.1358 | benign | -0.248 | Destabilizing | 1.0 | D | 0.489 | neutral | N | 0.512123198 | None | None | N |
| S/D | 0.446 | ambiguous | 0.4777 | ambiguous | 0.083 | Stabilizing | 0.13 | N | 0.225 | neutral | None | None | None | None | N |
| S/E | 0.5148 | ambiguous | 0.5538 | ambiguous | -0.026 | Destabilizing | 0.681 | D | 0.325 | neutral | None | None | None | None | N |
| S/F | 0.2182 | likely_benign | 0.2591 | benign | -0.954 | Destabilizing | 1.0 | D | 0.528 | neutral | None | None | None | None | N |
| S/G | 0.1026 | likely_benign | 0.1056 | benign | -0.381 | Destabilizing | 0.997 | D | 0.369 | neutral | N | 0.518766803 | None | None | N |
| S/H | 0.4139 | ambiguous | 0.4506 | ambiguous | -0.878 | Destabilizing | 1.0 | D | 0.424 | neutral | None | None | None | None | N |
| S/I | 0.1768 | likely_benign | 0.2028 | benign | -0.225 | Destabilizing | 1.0 | D | 0.502 | neutral | N | 0.511869709 | None | None | N |
| S/K | 0.6499 | likely_pathogenic | 0.7005 | pathogenic | -0.42 | Destabilizing | 0.998 | D | 0.32 | neutral | None | None | None | None | N |
| S/L | 0.0795 | likely_benign | 0.0941 | benign | -0.225 | Destabilizing | 1.0 | D | 0.445 | neutral | None | None | None | None | N |
| S/M | 0.1566 | likely_benign | 0.1688 | benign | 0.041 | Stabilizing | 1.0 | D | 0.449 | neutral | None | None | None | None | N |
| S/N | 0.1507 | likely_benign | 0.1618 | benign | -0.11 | Destabilizing | 0.91 | D | 0.387 | neutral | N | 0.51911352 | None | None | N |
| S/P | 0.6876 | likely_pathogenic | 0.6906 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.386 | neutral | None | None | None | None | N |
| S/Q | 0.4892 | ambiguous | 0.5235 | ambiguous | -0.401 | Destabilizing | 0.999 | D | 0.379 | neutral | None | None | None | None | N |
| S/R | 0.6298 | likely_pathogenic | 0.682 | pathogenic | -0.188 | Destabilizing | 0.999 | D | 0.407 | neutral | N | 0.513419699 | None | None | N |
| S/T | 0.0779 | likely_benign | 0.0798 | benign | -0.24 | Destabilizing | 0.953 | D | 0.397 | neutral | N | 0.46926349 | None | None | N |
| S/V | 0.1695 | likely_benign | 0.1859 | benign | -0.223 | Destabilizing | 0.999 | D | 0.448 | neutral | None | None | None | None | N |
| S/W | 0.3781 | ambiguous | 0.4233 | ambiguous | -0.965 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| S/Y | 0.2184 | likely_benign | 0.2579 | benign | -0.681 | Destabilizing | 1.0 | D | 0.525 | 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.