Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2683 | 8272;8273;8274 | chr2:178771280;178771279;178771278 | chr2:179636007;179636006;179636005 |
| N2AB | 2683 | 8272;8273;8274 | chr2:178771280;178771279;178771278 | chr2:179636007;179636006;179636005 |
| N2A | 2683 | 8272;8273;8274 | chr2:178771280;178771279;178771278 | chr2:179636007;179636006;179636005 |
| N2B | 2637 | 8134;8135;8136 | chr2:178771280;178771279;178771278 | chr2:179636007;179636006;179636005 |
| Novex-1 | 2637 | 8134;8135;8136 | chr2:178771280;178771279;178771278 | chr2:179636007;179636006;179636005 |
| Novex-2 | 2637 | 8134;8135;8136 | chr2:178771280;178771279;178771278 | chr2:179636007;179636006;179636005 |
| Novex-3 | 2683 | 8272;8273;8274 | chr2:178771280;178771279;178771278 | chr2:179636007;179636006;179636005 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | rs770445596  |
-1.332 | 0.891 | N | 0.351 | 0.311 | 0.508934680445 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.8E-06 | 0 |
| L/S | rs770445596 |
-1.332 | 0.891 | N | 0.351 | 0.311 | 0.508934680445 | gnomAD-4.0.0 | 1.59061E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85656E-06 | 0 | 0 |
| L/V | rs761118672 |
-0.998 | 0.012 | N | 0.175 | 0.058 | 0.104622674875 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 0 | 0 |
| L/V | rs761118672 |
-0.998 | 0.012 | N | 0.175 | 0.058 | 0.104622674875 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| L/V | rs761118672 |
-0.998 | 0.012 | N | 0.175 | 0.058 | 0.104622674875 | gnomAD-4.0.0 | 2.56131E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.13706E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.2317 | likely_benign | 0.2516 | benign | -1.136 | Destabilizing | 0.525 | D | 0.329 | neutral | None | None | None | None | N |
| L/C | 0.7499 | likely_pathogenic | 0.7622 | pathogenic | -0.714 | Destabilizing | 0.998 | D | 0.362 | neutral | None | None | None | None | N |
| L/D | 0.6923 | likely_pathogenic | 0.6856 | pathogenic | -0.456 | Destabilizing | 0.974 | D | 0.406 | neutral | None | None | None | None | N |
| L/E | 0.3871 | ambiguous | 0.3814 | ambiguous | -0.517 | Destabilizing | 0.974 | D | 0.376 | neutral | None | None | None | None | N |
| L/F | 0.1968 | likely_benign | 0.2032 | benign | -0.901 | Destabilizing | 0.934 | D | 0.306 | neutral | N | 0.339891277 | None | None | N |
| L/G | 0.5504 | ambiguous | 0.5727 | pathogenic | -1.371 | Destabilizing | 0.974 | D | 0.371 | neutral | None | None | None | None | N |
| L/H | 0.332 | likely_benign | 0.3367 | benign | -0.551 | Destabilizing | 0.998 | D | 0.411 | neutral | None | None | None | None | N |
| L/I | 0.0865 | likely_benign | 0.0966 | benign | -0.606 | Destabilizing | 0.454 | N | 0.297 | neutral | N | 0.344524061 | None | None | N |
| L/K | 0.3037 | likely_benign | 0.2897 | benign | -0.691 | Destabilizing | 0.949 | D | 0.369 | neutral | None | None | None | None | N |
| L/M | 0.1118 | likely_benign | 0.1219 | benign | -0.498 | Destabilizing | 0.325 | N | 0.256 | neutral | None | None | None | None | N |
| L/N | 0.3895 | ambiguous | 0.4108 | ambiguous | -0.427 | Destabilizing | 0.991 | D | 0.403 | neutral | None | None | None | None | N |
| L/P | 0.204 | likely_benign | 0.2044 | benign | -0.749 | Destabilizing | 0.007 | N | 0.32 | neutral | None | None | None | None | N |
| L/Q | 0.1915 | likely_benign | 0.1945 | benign | -0.662 | Destabilizing | 0.974 | D | 0.405 | neutral | None | None | None | None | N |
| L/R | 0.2565 | likely_benign | 0.2497 | benign | -0.07 | Destabilizing | 0.974 | D | 0.406 | neutral | None | None | None | None | N |
| L/S | 0.3211 | likely_benign | 0.3462 | ambiguous | -0.973 | Destabilizing | 0.891 | D | 0.351 | neutral | N | 0.353749564 | None | None | N |
| L/T | 0.2024 | likely_benign | 0.2217 | benign | -0.923 | Destabilizing | 0.842 | D | 0.339 | neutral | None | None | None | None | N |
| L/V | 0.1087 | likely_benign | 0.119 | benign | -0.749 | Destabilizing | 0.012 | N | 0.175 | neutral | N | 0.345332015 | None | None | N |
| L/W | 0.3312 | likely_benign | 0.3238 | benign | -0.897 | Destabilizing | 0.998 | D | 0.457 | neutral | None | None | None | None | N |
| L/Y | 0.4388 | ambiguous | 0.4398 | ambiguous | -0.68 | Destabilizing | 0.974 | D | 0.324 | 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.