Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16301 | 49126;49127;49128 | chr2:178614613;178614612;178614611 | chr2:179479340;179479339;179479338 |
| N2AB | 14660 | 44203;44204;44205 | chr2:178614613;178614612;178614611 | chr2:179479340;179479339;179479338 |
| N2A | 13733 | 41422;41423;41424 | chr2:178614613;178614612;178614611 | chr2:179479340;179479339;179479338 |
| N2B | 7236 | 21931;21932;21933 | chr2:178614613;178614612;178614611 | chr2:179479340;179479339;179479338 |
| Novex-1 | 7361 | 22306;22307;22308 | chr2:178614613;178614612;178614611 | chr2:179479340;179479339;179479338 |
| Novex-2 | 7428 | 22507;22508;22509 | chr2:178614613;178614612;178614611 | chr2:179479340;179479339;179479338 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | rs886038833  |
-0.494 | 0.56 | N | 0.189 | 0.059 | 0.39208347742 | gnomAD-2.1.1 | 8.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| Q/H | rs886038833 |
-0.494 | 0.56 | N | 0.189 | 0.059 | 0.39208347742 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/H | rs886038833 |
-0.494 | 0.56 | N | 0.189 | 0.059 | 0.39208347742 | gnomAD-4.0.0 | 3.72147E-06 | None | None | None | None | N | None | 1.3374E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.24035E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.0796 | likely_benign | 0.0767 | benign | -0.277 | Destabilizing | 0.007 | N | 0.199 | neutral | None | None | None | None | N |
| Q/C | 0.5798 | likely_pathogenic | 0.5126 | ambiguous | 0.131 | Stabilizing | 0.628 | D | 0.241 | neutral | None | None | None | None | N |
| Q/D | 0.2271 | likely_benign | 0.2283 | benign | 0.099 | Stabilizing | 0.031 | N | 0.151 | neutral | None | None | None | None | N |
| Q/E | 0.0666 | likely_benign | 0.0635 | benign | 0.09 | Stabilizing | 0.024 | N | 0.194 | neutral | N | 0.374873986 | None | None | N |
| Q/F | 0.6684 | likely_pathogenic | 0.7096 | pathogenic | -0.397 | Destabilizing | 0.214 | N | 0.336 | neutral | None | None | None | None | N |
| Q/G | 0.1639 | likely_benign | 0.161 | benign | -0.492 | Destabilizing | 0.031 | N | 0.267 | neutral | None | None | None | None | N |
| Q/H | 0.2176 | likely_benign | 0.1994 | benign | -0.346 | Destabilizing | 0.56 | D | 0.189 | neutral | N | 0.480832924 | None | None | N |
| Q/I | 0.3379 | likely_benign | 0.3477 | ambiguous | 0.207 | Stabilizing | None | N | 0.17 | neutral | None | None | None | None | N |
| Q/K | 0.0904 | likely_benign | 0.0792 | benign | 0.015 | Stabilizing | 0.024 | N | 0.208 | neutral | N | 0.459926449 | None | None | N |
| Q/L | 0.1374 | likely_benign | 0.1457 | benign | 0.207 | Stabilizing | 0.005 | N | 0.223 | neutral | N | 0.459284677 | None | None | N |
| Q/M | 0.2635 | likely_benign | 0.2734 | benign | 0.407 | Stabilizing | 0.214 | N | 0.169 | neutral | None | None | None | None | N |
| Q/N | 0.1549 | likely_benign | 0.1717 | benign | -0.359 | Destabilizing | 0.136 | N | 0.167 | neutral | None | None | None | None | N |
| Q/P | 0.0465 | likely_benign | 0.0444 | benign | 0.075 | Stabilizing | None | N | 0.133 | neutral | N | 0.359837327 | None | None | N |
| Q/R | 0.1204 | likely_benign | 0.1057 | benign | 0.149 | Stabilizing | 0.106 | N | 0.177 | neutral | N | 0.47643936 | None | None | N |
| Q/S | 0.1004 | likely_benign | 0.1088 | benign | -0.364 | Destabilizing | 0.031 | N | 0.169 | neutral | None | None | None | None | N |
| Q/T | 0.1042 | likely_benign | 0.1017 | benign | -0.208 | Destabilizing | 0.031 | N | 0.275 | neutral | None | None | None | None | N |
| Q/V | 0.1921 | likely_benign | 0.1877 | benign | 0.075 | Stabilizing | 0.007 | N | 0.219 | neutral | None | None | None | None | N |
| Q/W | 0.6338 | likely_pathogenic | 0.6403 | pathogenic | -0.36 | Destabilizing | 0.864 | D | 0.249 | neutral | None | None | None | None | N |
| Q/Y | 0.4838 | ambiguous | 0.486 | ambiguous | -0.114 | Destabilizing | 0.628 | D | 0.297 | 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.