Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22171 | 66736;66737;66738 | chr2:178581757;178581756;178581755 | chr2:179446484;179446483;179446482 |
| N2AB | 20530 | 61813;61814;61815 | chr2:178581757;178581756;178581755 | chr2:179446484;179446483;179446482 |
| N2A | 19603 | 59032;59033;59034 | chr2:178581757;178581756;178581755 | chr2:179446484;179446483;179446482 |
| N2B | 13106 | 39541;39542;39543 | chr2:178581757;178581756;178581755 | chr2:179446484;179446483;179446482 |
| Novex-1 | 13231 | 39916;39917;39918 | chr2:178581757;178581756;178581755 | chr2:179446484;179446483;179446482 |
| Novex-2 | 13298 | 40117;40118;40119 | chr2:178581757;178581756;178581755 | chr2:179446484;179446483;179446482 |
| 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 | rs775999434  |
-0.28 | 0.983 | N | 0.613 | 0.361 | 0.561523483268 | gnomAD-2.1.1 | 4.24E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.4E-05 | None | 0 | 0 | 0 |
| S/I | rs775999434 |
-0.28 | 0.983 | N | 0.613 | 0.361 | 0.561523483268 | gnomAD-4.0.0 | 1.37538E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.34269E-05 | 0 |
| S/N | rs775999434 |
-0.553 | 0.011 | N | 0.16 | 0.052 | 0.107399877778 | gnomAD-2.1.1 | 4.24E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.43E-06 | 0 |
| S/N | rs775999434 |
-0.553 | 0.011 | N | 0.16 | 0.052 | 0.107399877778 | gnomAD-4.0.0 | 1.37538E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80515E-06 | 0 | 0 |
| S/R | rs768917357 |
-0.246 | 0.967 | N | 0.521 | 0.291 | 0.250039746154 | gnomAD-2.1.1 | 4.24E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.4E-05 | None | 0 | 0 | 0 |
| S/R | rs768917357 |
-0.246 | 0.967 | N | 0.521 | 0.291 | 0.250039746154 | gnomAD-4.0.0 | 1.3753E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.34274E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1586 | likely_benign | 0.1499 | benign | -0.695 | Destabilizing | 0.818 | D | 0.467 | neutral | None | None | None | None | N |
| S/C | 0.119 | likely_benign | 0.1269 | benign | -0.581 | Destabilizing | 0.999 | D | 0.52 | neutral | N | 0.504809499 | None | None | N |
| S/D | 0.4151 | ambiguous | 0.3982 | ambiguous | -0.704 | Destabilizing | 0.845 | D | 0.426 | neutral | None | None | None | None | N |
| S/E | 0.5829 | likely_pathogenic | 0.569 | pathogenic | -0.746 | Destabilizing | 0.916 | D | 0.454 | neutral | None | None | None | None | N |
| S/F | 0.3016 | likely_benign | 0.2811 | benign | -1.171 | Destabilizing | 0.996 | D | 0.621 | neutral | None | None | None | None | N |
| S/G | 0.1488 | likely_benign | 0.1428 | benign | -0.867 | Destabilizing | 0.63 | D | 0.452 | neutral | N | 0.475803011 | None | None | N |
| S/H | 0.219 | likely_benign | 0.2412 | benign | -1.427 | Destabilizing | 0.987 | D | 0.537 | neutral | None | None | None | None | N |
| S/I | 0.4466 | ambiguous | 0.4081 | ambiguous | -0.35 | Destabilizing | 0.983 | D | 0.613 | neutral | N | 0.49927609 | None | None | N |
| S/K | 0.5943 | likely_pathogenic | 0.6007 | pathogenic | -0.683 | Destabilizing | 0.916 | D | 0.452 | neutral | None | None | None | None | N |
| S/L | 0.1946 | likely_benign | 0.1855 | benign | -0.35 | Destabilizing | 0.987 | D | 0.522 | neutral | None | None | None | None | N |
| S/M | 0.2789 | likely_benign | 0.2616 | benign | 0.124 | Stabilizing | 0.999 | D | 0.507 | neutral | None | None | None | None | N |
| S/N | 0.1262 | likely_benign | 0.1147 | benign | -0.637 | Destabilizing | 0.011 | N | 0.16 | neutral | N | 0.458009133 | None | None | N |
| S/P | 0.9238 | likely_pathogenic | 0.9277 | pathogenic | -0.435 | Destabilizing | 0.996 | D | 0.529 | neutral | None | None | None | None | N |
| S/Q | 0.4378 | ambiguous | 0.451 | ambiguous | -0.966 | Destabilizing | 0.975 | D | 0.51 | neutral | None | None | None | None | N |
| S/R | 0.5789 | likely_pathogenic | 0.5688 | pathogenic | -0.439 | Destabilizing | 0.967 | D | 0.521 | neutral | N | 0.487121319 | None | None | N |
| S/T | 0.0921 | likely_benign | 0.0837 | benign | -0.659 | Destabilizing | 0.892 | D | 0.429 | neutral | N | 0.438380435 | None | None | N |
| S/V | 0.4049 | ambiguous | 0.3837 | ambiguous | -0.435 | Destabilizing | 0.987 | D | 0.589 | neutral | None | None | None | None | N |
| S/W | 0.4668 | ambiguous | 0.4834 | ambiguous | -1.121 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | N |
| S/Y | 0.1974 | likely_benign | 0.1996 | benign | -0.84 | Destabilizing | 0.996 | D | 0.619 | 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.