Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31255 | 93988;93989;93990 | chr2:178547863;178547862;178547861 | chr2:179412590;179412589;179412588 |
| N2AB | 29614 | 89065;89066;89067 | chr2:178547863;178547862;178547861 | chr2:179412590;179412589;179412588 |
| N2A | 28687 | 86284;86285;86286 | chr2:178547863;178547862;178547861 | chr2:179412590;179412589;179412588 |
| N2B | 22190 | 66793;66794;66795 | chr2:178547863;178547862;178547861 | chr2:179412590;179412589;179412588 |
| Novex-1 | 22315 | 67168;67169;67170 | chr2:178547863;178547862;178547861 | chr2:179412590;179412589;179412588 |
| Novex-2 | 22382 | 67369;67370;67371 | chr2:178547863;178547862;178547861 | chr2:179412590;179412589;179412588 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs1219872044  |
-0.042 | 0.98 | N | 0.555 | 0.351 | 0.363751660372 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| R/G | rs1219872044 |
-0.042 | 0.98 | N | 0.555 | 0.351 | 0.363751660372 | 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 |
| R/G | rs1219872044 |
-0.042 | 0.98 | N | 0.555 | 0.351 | 0.363751660372 | gnomAD-4.0.0 | 2.56178E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78531E-06 | 0 | 0 |
| R/K | rs376833905 |
0.377 | 0.122 | N | 0.238 | 0.14 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| R/K | rs376833905 |
0.377 | 0.122 | N | 0.238 | 0.14 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| R/K | rs376833905 |
0.377 | 0.122 | N | 0.238 | 0.14 | None | gnomAD-4.0.0 | 3.71815E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08547E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.3488 | ambiguous | 0.4093 | ambiguous | 0.066 | Stabilizing | 0.931 | D | 0.531 | neutral | None | None | None | None | N |
| R/C | 0.2009 | likely_benign | 0.2201 | benign | -0.005 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| R/D | 0.6306 | likely_pathogenic | 0.6985 | pathogenic | -0.009 | Destabilizing | 0.996 | D | 0.557 | neutral | None | None | None | None | N |
| R/E | 0.3781 | ambiguous | 0.4241 | ambiguous | 0.069 | Stabilizing | 0.97 | D | 0.52 | neutral | None | None | None | None | N |
| R/F | 0.4894 | ambiguous | 0.5426 | ambiguous | -0.046 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| R/G | 0.2748 | likely_benign | 0.3447 | ambiguous | -0.159 | Destabilizing | 0.98 | D | 0.555 | neutral | N | 0.489191337 | None | None | N |
| R/H | 0.1183 | likely_benign | 0.1315 | benign | -0.685 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | N |
| R/I | 0.2143 | likely_benign | 0.2336 | benign | 0.628 | Stabilizing | 0.998 | D | 0.642 | neutral | N | 0.463140886 | None | None | N |
| R/K | 0.1042 | likely_benign | 0.1131 | benign | 0.022 | Stabilizing | 0.122 | N | 0.238 | neutral | N | 0.423272989 | None | None | N |
| R/L | 0.1959 | likely_benign | 0.2185 | benign | 0.628 | Stabilizing | 0.985 | D | 0.555 | neutral | None | None | None | None | N |
| R/M | 0.2299 | likely_benign | 0.2625 | benign | 0.137 | Stabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | N |
| R/N | 0.5078 | ambiguous | 0.5773 | pathogenic | 0.307 | Stabilizing | 0.985 | D | 0.545 | neutral | None | None | None | None | N |
| R/P | 0.3248 | likely_benign | 0.3789 | ambiguous | 0.462 | Stabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | N |
| R/Q | 0.117 | likely_benign | 0.1296 | benign | 0.218 | Stabilizing | 0.97 | D | 0.579 | neutral | None | None | None | None | N |
| R/S | 0.4573 | ambiguous | 0.5411 | ambiguous | -0.044 | Destabilizing | 0.961 | D | 0.55 | neutral | N | 0.455385407 | None | None | N |
| R/T | 0.2248 | likely_benign | 0.2693 | benign | 0.176 | Stabilizing | 0.98 | D | 0.569 | neutral | N | 0.445304487 | None | None | N |
| R/V | 0.2756 | likely_benign | 0.302 | benign | 0.462 | Stabilizing | 0.996 | D | 0.565 | neutral | None | None | None | None | N |
| R/W | 0.1727 | likely_benign | 0.1924 | benign | -0.069 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| R/Y | 0.364 | ambiguous | 0.3889 | ambiguous | 0.327 | Stabilizing | 0.999 | D | 0.637 | 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.