Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25837 | 77734;77735;77736 | chr2:178568623;178568622;178568621 | chr2:179433350;179433349;179433348 |
| N2AB | 24196 | 72811;72812;72813 | chr2:178568623;178568622;178568621 | chr2:179433350;179433349;179433348 |
| N2A | 23269 | 70030;70031;70032 | chr2:178568623;178568622;178568621 | chr2:179433350;179433349;179433348 |
| N2B | 16772 | 50539;50540;50541 | chr2:178568623;178568622;178568621 | chr2:179433350;179433349;179433348 |
| Novex-1 | 16897 | 50914;50915;50916 | chr2:178568623;178568622;178568621 | chr2:179433350;179433349;179433348 |
| Novex-2 | 16964 | 51115;51116;51117 | chr2:178568623;178568622;178568621 | chr2:179433350;179433349;179433348 |
| 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/L | rs752618930  |
0.059 | 0.454 | N | 0.43 | 0.297 | 0.560303992393 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| P/L | rs752618930 |
0.059 | 0.454 | N | 0.43 | 0.297 | 0.560303992393 | gnomAD-4.0.0 | 1.59203E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85981E-06 | 0 | 0 |
| P/R | None | None | 0.966 | N | 0.458 | 0.351 | 0.472102515431 | gnomAD-4.0.0 | 1.59203E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85981E-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 | 0.0661 | likely_benign | 0.0647 | benign | -0.485 | Destabilizing | 0.022 | N | 0.189 | neutral | N | 0.485054953 | None | None | N |
| P/C | 0.3379 | likely_benign | 0.3273 | benign | -0.544 | Destabilizing | 0.998 | D | 0.467 | neutral | None | None | None | None | N |
| P/D | 0.324 | likely_benign | 0.3157 | benign | -0.202 | Destabilizing | 0.016 | N | 0.24 | neutral | None | None | None | None | N |
| P/E | 0.2178 | likely_benign | 0.2153 | benign | -0.309 | Destabilizing | 0.728 | D | 0.343 | neutral | None | None | None | None | N |
| P/F | 0.3096 | likely_benign | 0.2851 | benign | -0.674 | Destabilizing | 0.974 | D | 0.484 | neutral | None | None | None | None | N |
| P/G | 0.2574 | likely_benign | 0.2497 | benign | -0.632 | Destabilizing | 0.525 | D | 0.409 | neutral | None | None | None | None | N |
| P/H | 0.1435 | likely_benign | 0.1423 | benign | -0.209 | Destabilizing | 0.998 | D | 0.453 | neutral | None | None | None | None | N |
| P/I | 0.1433 | likely_benign | 0.1328 | benign | -0.244 | Destabilizing | 0.728 | D | 0.419 | neutral | None | None | None | None | N |
| P/K | 0.2107 | likely_benign | 0.2155 | benign | -0.409 | Destabilizing | 0.842 | D | 0.333 | neutral | None | None | None | None | N |
| P/L | 0.0746 | likely_benign | 0.0734 | benign | -0.244 | Destabilizing | 0.454 | N | 0.43 | neutral | N | 0.50173656 | None | None | N |
| P/M | 0.1773 | likely_benign | 0.1669 | benign | -0.296 | Destabilizing | 0.974 | D | 0.451 | neutral | None | None | None | None | N |
| P/N | 0.2206 | likely_benign | 0.2024 | benign | -0.112 | Destabilizing | 0.949 | D | 0.451 | neutral | None | None | None | None | N |
| P/Q | 0.1156 | likely_benign | 0.1136 | benign | -0.344 | Destabilizing | 0.966 | D | 0.446 | neutral | N | 0.49912623 | None | None | N |
| P/R | 0.1614 | likely_benign | 0.1653 | benign | 0.092 | Stabilizing | 0.966 | D | 0.458 | neutral | N | 0.486061631 | None | None | N |
| P/S | 0.1072 | likely_benign | 0.101 | benign | -0.496 | Destabilizing | 0.454 | N | 0.346 | neutral | N | 0.521514399 | None | None | N |
| P/T | 0.0853 | likely_benign | 0.0809 | benign | -0.499 | Destabilizing | 0.051 | N | 0.235 | neutral | D | 0.523015909 | None | None | N |
| P/V | 0.1032 | likely_benign | 0.0998 | benign | -0.288 | Destabilizing | 0.067 | N | 0.307 | neutral | None | None | None | None | N |
| P/W | 0.4989 | ambiguous | 0.5062 | ambiguous | -0.765 | Destabilizing | 0.998 | D | 0.559 | neutral | None | None | None | None | N |
| P/Y | 0.3043 | likely_benign | 0.2977 | benign | -0.461 | Destabilizing | 0.991 | D | 0.489 | 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.