Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16872 | 50839;50840;50841 | chr2:178611615;178611614;178611613 | chr2:179476342;179476341;179476340 |
| N2AB | 15231 | 45916;45917;45918 | chr2:178611615;178611614;178611613 | chr2:179476342;179476341;179476340 |
| N2A | 14304 | 43135;43136;43137 | chr2:178611615;178611614;178611613 | chr2:179476342;179476341;179476340 |
| N2B | 7807 | 23644;23645;23646 | chr2:178611615;178611614;178611613 | chr2:179476342;179476341;179476340 |
| Novex-1 | 7932 | 24019;24020;24021 | chr2:178611615;178611614;178611613 | chr2:179476342;179476341;179476340 |
| Novex-2 | 7999 | 24220;24221;24222 | chr2:178611615;178611614;178611613 | chr2:179476342;179476341;179476340 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs727503619  |
-0.193 | 0.999 | N | 0.813 | 0.374 | 0.264081493735 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| A/P | rs727503619 |
-0.193 | 0.999 | N | 0.813 | 0.374 | 0.264081493735 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/P | rs727503619 |
-0.193 | 0.999 | N | 0.813 | 0.374 | 0.264081493735 | gnomAD-4.0.0 | 2.47996E-05 | None | None | None | None | N | None | 0 | 1.66834E-05 | None | 0 | 0 | None | 0 | 0 | 3.30692E-05 | 0 | 0 |
| A/V | rs748264576 |
0.14 | 0.998 | N | 0.683 | 0.34 | 0.352476196916 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs748264576 |
0.14 | 0.998 | N | 0.683 | 0.34 | 0.352476196916 | gnomAD-4.0.0 | 1.59291E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43332E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5602 | ambiguous | 0.5663 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| A/D | 0.6778 | likely_pathogenic | 0.6441 | pathogenic | -2.109 | Highly Destabilizing | 0.999 | D | 0.808 | deleterious | N | 0.481029695 | None | None | N |
| A/E | 0.4695 | ambiguous | 0.4537 | ambiguous | -1.981 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| A/F | 0.5545 | ambiguous | 0.5398 | ambiguous | -0.721 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | N |
| A/G | 0.2711 | likely_benign | 0.2471 | benign | -1.308 | Destabilizing | 0.996 | D | 0.541 | neutral | N | 0.479189905 | None | None | N |
| A/H | 0.6919 | likely_pathogenic | 0.6766 | pathogenic | -1.886 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/I | 0.431 | ambiguous | 0.4281 | ambiguous | 0.145 | Stabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| A/K | 0.7681 | likely_pathogenic | 0.7563 | pathogenic | -1.231 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| A/L | 0.3373 | likely_benign | 0.3069 | benign | 0.145 | Stabilizing | 0.998 | D | 0.709 | prob.delet. | None | None | None | None | N |
| A/M | 0.3511 | ambiguous | 0.3437 | ambiguous | 0.178 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/N | 0.4355 | ambiguous | 0.4239 | ambiguous | -1.288 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| A/P | 0.9871 | likely_pathogenic | 0.9841 | pathogenic | -0.161 | Destabilizing | 0.999 | D | 0.813 | deleterious | N | 0.50767516 | None | None | N |
| A/Q | 0.4946 | ambiguous | 0.4782 | ambiguous | -1.206 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| A/R | 0.7006 | likely_pathogenic | 0.6733 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/S | 0.0913 | likely_benign | 0.0892 | benign | -1.611 | Destabilizing | 0.957 | D | 0.405 | neutral | N | 0.419488947 | None | None | N |
| A/T | 0.0978 | likely_benign | 0.0981 | benign | -1.384 | Destabilizing | 0.992 | D | 0.629 | neutral | N | 0.376259907 | None | None | N |
| A/V | 0.2337 | likely_benign | 0.2263 | benign | -0.161 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | N | 0.480285537 | None | None | N |
| A/W | 0.9322 | likely_pathogenic | 0.9175 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| A/Y | 0.7358 | likely_pathogenic | 0.7267 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.887 | deleterious | 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.