Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16363 | 49312;49313;49314 | chr2:178614310;178614309;178614308 | chr2:179479037;179479036;179479035 |
| N2AB | 14722 | 44389;44390;44391 | chr2:178614310;178614309;178614308 | chr2:179479037;179479036;179479035 |
| N2A | 13795 | 41608;41609;41610 | chr2:178614310;178614309;178614308 | chr2:179479037;179479036;179479035 |
| N2B | 7298 | 22117;22118;22119 | chr2:178614310;178614309;178614308 | chr2:179479037;179479036;179479035 |
| Novex-1 | 7423 | 22492;22493;22494 | chr2:178614310;178614309;178614308 | chr2:179479037;179479036;179479035 |
| Novex-2 | 7490 | 22693;22694;22695 | chr2:178614310;178614309;178614308 | chr2:179479037;179479036;179479035 |
| 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/A | rs369266863  |
-1.659 | 0.334 | N | 0.401 | 0.281 | None | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 1.24378E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs369266863 |
-1.659 | 0.334 | N | 0.401 | 0.281 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.25E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs369266863 |
-1.659 | 0.334 | N | 0.401 | 0.281 | None | gnomAD-4.0.0 | 2.63397E-05 | None | None | None | None | N | None | 7.24708E-05 | 6.56426E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs776691941 |
-0.559 | 0.001 | N | 0.111 | 0.119 | 0.393159880135 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| V/I | rs776691941 |
-0.559 | 0.001 | N | 0.111 | 0.119 | 0.393159880135 | gnomAD-4.0.0 | 1.59333E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86172E-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 | 0.7054 | likely_pathogenic | 0.6036 | pathogenic | -1.433 | Destabilizing | 0.334 | N | 0.401 | neutral | N | 0.485232124 | None | None | N |
| V/C | 0.8846 | likely_pathogenic | 0.8428 | pathogenic | -1.457 | Destabilizing | 0.992 | D | 0.383 | neutral | None | None | None | None | N |
| V/D | 0.9461 | likely_pathogenic | 0.9146 | pathogenic | -1.921 | Destabilizing | 0.972 | D | 0.513 | neutral | None | None | None | None | N |
| V/E | 0.8659 | likely_pathogenic | 0.8008 | pathogenic | -1.935 | Destabilizing | 0.963 | D | 0.439 | neutral | D | 0.613397963 | None | None | N |
| V/F | 0.5096 | ambiguous | 0.4092 | ambiguous | -1.421 | Destabilizing | 0.85 | D | 0.344 | neutral | None | None | None | None | N |
| V/G | 0.8256 | likely_pathogenic | 0.7597 | pathogenic | -1.701 | Destabilizing | 0.896 | D | 0.451 | neutral | D | 0.555534986 | None | None | N |
| V/H | 0.9538 | likely_pathogenic | 0.9259 | pathogenic | -1.258 | Destabilizing | 0.992 | D | 0.528 | neutral | None | None | None | None | N |
| V/I | 0.0618 | likely_benign | 0.0597 | benign | -0.795 | Destabilizing | 0.001 | N | 0.111 | neutral | N | 0.434088671 | None | None | N |
| V/K | 0.8441 | likely_pathogenic | 0.7717 | pathogenic | -1.131 | Destabilizing | 0.92 | D | 0.445 | neutral | None | None | None | None | N |
| V/L | 0.4511 | ambiguous | 0.3528 | ambiguous | -0.795 | Destabilizing | 0.036 | N | 0.233 | neutral | N | 0.486836698 | None | None | N |
| V/M | 0.3287 | likely_benign | 0.2564 | benign | -0.734 | Destabilizing | 0.85 | D | 0.411 | neutral | None | None | None | None | N |
| V/N | 0.8613 | likely_pathogenic | 0.796 | pathogenic | -1.082 | Destabilizing | 0.972 | D | 0.535 | neutral | None | None | None | None | N |
| V/P | 0.8962 | likely_pathogenic | 0.8424 | pathogenic | -0.976 | Destabilizing | 0.972 | D | 0.469 | neutral | None | None | None | None | N |
| V/Q | 0.8678 | likely_pathogenic | 0.8013 | pathogenic | -1.341 | Destabilizing | 0.972 | D | 0.481 | neutral | None | None | None | None | N |
| V/R | 0.8279 | likely_pathogenic | 0.7481 | pathogenic | -0.643 | Destabilizing | 0.972 | D | 0.531 | neutral | None | None | None | None | N |
| V/S | 0.8134 | likely_pathogenic | 0.7422 | pathogenic | -1.544 | Destabilizing | 0.92 | D | 0.406 | neutral | None | None | None | None | N |
| V/T | 0.5713 | likely_pathogenic | 0.4864 | ambiguous | -1.456 | Destabilizing | 0.617 | D | 0.386 | neutral | None | None | None | None | N |
| V/W | 0.9704 | likely_pathogenic | 0.9504 | pathogenic | -1.578 | Destabilizing | 0.992 | D | 0.64 | neutral | None | None | None | None | N |
| V/Y | 0.8845 | likely_pathogenic | 0.8233 | pathogenic | -1.231 | Destabilizing | 0.92 | D | 0.396 | 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.