Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30445 | 91558;91559;91560 | chr2:178551198;178551197;178551196 | chr2:179415925;179415924;179415923 |
| N2AB | 28804 | 86635;86636;86637 | chr2:178551198;178551197;178551196 | chr2:179415925;179415924;179415923 |
| N2A | 27877 | 83854;83855;83856 | chr2:178551198;178551197;178551196 | chr2:179415925;179415924;179415923 |
| N2B | 21380 | 64363;64364;64365 | chr2:178551198;178551197;178551196 | chr2:179415925;179415924;179415923 |
| Novex-1 | 21505 | 64738;64739;64740 | chr2:178551198;178551197;178551196 | chr2:179415925;179415924;179415923 |
| Novex-2 | 21572 | 64939;64940;64941 | chr2:178551198;178551197;178551196 | chr2:179415925;179415924;179415923 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/Q | rs749169334  |
-1.062 | 0.966 | N | 0.621 | 0.302 | 0.432936702747 | 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 |
| P/Q | rs749169334 |
-1.062 | 0.966 | N | 0.621 | 0.302 | 0.432936702747 | gnomAD-4.0.0 | 1.36864E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79913E-06 | 0 | 0 |
| P/R | None | None | 0.966 | N | 0.636 | 0.323 | 0.443388199986 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| P/R | None | None | 0.966 | N | 0.636 | 0.323 | 0.443388199986 | gnomAD-4.0.0 | 4.79026E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29696E-06 | 0 | 0 |
| P/S | None | None | 0.454 | N | 0.444 | 0.173 | 0.225215365344 | gnomAD-4.0.0 | 1.5919E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85928E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0819 | likely_benign | 0.0772 | benign | -1.561 | Destabilizing | 0.005 | N | 0.235 | neutral | N | 0.441466387 | None | None | N |
| P/C | 0.5168 | ambiguous | 0.4895 | ambiguous | -0.992 | Destabilizing | 0.993 | D | 0.575 | neutral | None | None | None | None | N |
| P/D | 0.7505 | likely_pathogenic | 0.761 | pathogenic | -1.552 | Destabilizing | 0.915 | D | 0.585 | neutral | None | None | None | None | N |
| P/E | 0.3393 | likely_benign | 0.3599 | ambiguous | -1.497 | Destabilizing | 0.842 | D | 0.544 | neutral | None | None | None | None | N |
| P/F | 0.585 | likely_pathogenic | 0.5708 | pathogenic | -1.12 | Destabilizing | 0.974 | D | 0.601 | neutral | None | None | None | None | N |
| P/G | 0.4939 | ambiguous | 0.4758 | ambiguous | -1.91 | Destabilizing | 0.728 | D | 0.493 | neutral | None | None | None | None | N |
| P/H | 0.279 | likely_benign | 0.2819 | benign | -1.369 | Destabilizing | 0.998 | D | 0.575 | neutral | None | None | None | None | N |
| P/I | 0.2524 | likely_benign | 0.2395 | benign | -0.672 | Destabilizing | 0.067 | N | 0.468 | neutral | None | None | None | None | N |
| P/K | 0.2924 | likely_benign | 0.3091 | benign | -1.341 | Destabilizing | 0.842 | D | 0.559 | neutral | None | None | None | None | N |
| P/L | 0.1373 | likely_benign | 0.1375 | benign | -0.672 | Destabilizing | 0.454 | N | 0.4 | neutral | N | 0.479796391 | None | None | N |
| P/M | 0.2848 | likely_benign | 0.2646 | benign | -0.593 | Destabilizing | 0.974 | D | 0.593 | neutral | None | None | None | None | N |
| P/N | 0.5172 | ambiguous | 0.4939 | ambiguous | -1.205 | Destabilizing | 0.974 | D | 0.643 | neutral | None | None | None | None | N |
| P/Q | 0.1696 | likely_benign | 0.1668 | benign | -1.294 | Destabilizing | 0.966 | D | 0.621 | neutral | N | 0.484201231 | None | None | N |
| P/R | 0.2229 | likely_benign | 0.2428 | benign | -0.883 | Destabilizing | 0.966 | D | 0.636 | neutral | N | 0.445336198 | None | None | N |
| P/S | 0.1861 | likely_benign | 0.183 | benign | -1.698 | Destabilizing | 0.454 | N | 0.444 | neutral | N | 0.497687816 | None | None | N |
| P/T | 0.1331 | likely_benign | 0.1296 | benign | -1.521 | Destabilizing | 0.051 | N | 0.291 | neutral | N | 0.505133863 | None | None | N |
| P/V | 0.1701 | likely_benign | 0.1671 | benign | -0.936 | Destabilizing | 0.067 | N | 0.418 | neutral | None | None | None | None | N |
| P/W | 0.8198 | likely_pathogenic | 0.8137 | pathogenic | -1.34 | Destabilizing | 0.998 | D | 0.625 | neutral | None | None | None | None | N |
| P/Y | 0.5464 | ambiguous | 0.5453 | ambiguous | -1.041 | Destabilizing | 0.991 | D | 0.597 | 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.