Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20279 | 61060;61061;61062 | chr2:178590890;178590889;178590888 | chr2:179455617;179455616;179455615 |
| N2AB | 18638 | 56137;56138;56139 | chr2:178590890;178590889;178590888 | chr2:179455617;179455616;179455615 |
| N2A | 17711 | 53356;53357;53358 | chr2:178590890;178590889;178590888 | chr2:179455617;179455616;179455615 |
| N2B | 11214 | 33865;33866;33867 | chr2:178590890;178590889;178590888 | chr2:179455617;179455616;179455615 |
| Novex-1 | 11339 | 34240;34241;34242 | chr2:178590890;178590889;178590888 | chr2:179455617;179455616;179455615 |
| Novex-2 | 11406 | 34441;34442;34443 | chr2:178590890;178590889;178590888 | chr2:179455617;179455616;179455615 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs2050067416  |
None | 0.27 | N | 0.393 | 0.107 | 0.241664281697 | gnomAD-4.0.0 | 6.85258E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00911E-07 | 0 | 0 |
| V/M | None | None | 0.863 | N | 0.505 | 0.188 | 0.318828661733 | gnomAD-4.0.0 | 3.42629E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50455E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1157 | likely_benign | 0.1176 | benign | -0.819 | Destabilizing | 0.002 | N | 0.154 | neutral | N | 0.497162167 | None | None | N |
| V/C | 0.5583 | ambiguous | 0.536 | ambiguous | -0.691 | Destabilizing | 0.995 | D | 0.58 | neutral | None | None | None | None | N |
| V/D | 0.2128 | likely_benign | 0.2077 | benign | -0.615 | Destabilizing | 0.704 | D | 0.585 | neutral | None | None | None | None | N |
| V/E | 0.1456 | likely_benign | 0.1386 | benign | -0.706 | Destabilizing | 0.473 | N | 0.507 | neutral | N | 0.408561748 | None | None | N |
| V/F | 0.1266 | likely_benign | 0.1297 | benign | -0.864 | Destabilizing | 0.893 | D | 0.617 | neutral | None | None | None | None | N |
| V/G | 0.2104 | likely_benign | 0.2052 | benign | -1.011 | Destabilizing | 0.473 | N | 0.5 | neutral | N | 0.502626702 | None | None | N |
| V/H | 0.3217 | likely_benign | 0.3132 | benign | -0.587 | Destabilizing | 0.017 | N | 0.422 | neutral | None | None | None | None | N |
| V/I | 0.0693 | likely_benign | 0.0695 | benign | -0.446 | Destabilizing | 0.007 | N | 0.205 | neutral | None | None | None | None | N |
| V/K | 0.1872 | likely_benign | 0.1836 | benign | -0.752 | Destabilizing | 0.543 | D | 0.531 | neutral | None | None | None | None | N |
| V/L | 0.1182 | likely_benign | 0.1184 | benign | -0.446 | Destabilizing | 0.27 | N | 0.393 | neutral | N | 0.482502146 | None | None | N |
| V/M | 0.0905 | likely_benign | 0.0916 | benign | -0.392 | Destabilizing | 0.863 | D | 0.505 | neutral | N | 0.496412806 | None | None | N |
| V/N | 0.1589 | likely_benign | 0.1545 | benign | -0.457 | Destabilizing | 0.704 | D | 0.603 | neutral | None | None | None | None | N |
| V/P | 0.8238 | likely_pathogenic | 0.8277 | pathogenic | -0.534 | Destabilizing | 0.944 | D | 0.631 | neutral | None | None | None | None | N |
| V/Q | 0.1775 | likely_benign | 0.1676 | benign | -0.706 | Destabilizing | 0.085 | N | 0.396 | neutral | None | None | None | None | N |
| V/R | 0.1745 | likely_benign | 0.1705 | benign | -0.198 | Destabilizing | 0.704 | D | 0.613 | neutral | None | None | None | None | N |
| V/S | 0.1317 | likely_benign | 0.1301 | benign | -0.848 | Destabilizing | 0.329 | N | 0.481 | neutral | None | None | None | None | N |
| V/T | 0.1045 | likely_benign | 0.1057 | benign | -0.838 | Destabilizing | 0.031 | N | 0.232 | neutral | None | None | None | None | N |
| V/W | 0.6564 | likely_pathogenic | 0.6493 | pathogenic | -0.959 | Destabilizing | 0.995 | D | 0.613 | neutral | None | None | None | None | N |
| V/Y | 0.3757 | ambiguous | 0.3585 | ambiguous | -0.675 | Destabilizing | 0.893 | D | 0.635 | 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.