Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28664 | 86215;86216;86217 | chr2:178560142;178560141;178560140 | chr2:179424869;179424868;179424867 |
| N2AB | 27023 | 81292;81293;81294 | chr2:178560142;178560141;178560140 | chr2:179424869;179424868;179424867 |
| N2A | 26096 | 78511;78512;78513 | chr2:178560142;178560141;178560140 | chr2:179424869;179424868;179424867 |
| N2B | 19599 | 59020;59021;59022 | chr2:178560142;178560141;178560140 | chr2:179424869;179424868;179424867 |
| Novex-1 | 19724 | 59395;59396;59397 | chr2:178560142;178560141;178560140 | chr2:179424869;179424868;179424867 |
| Novex-2 | 19791 | 59596;59597;59598 | chr2:178560142;178560141;178560140 | chr2:179424869;179424868;179424867 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs370285001  |
-0.743 | 0.041 | N | 0.428 | 0.058 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs370285001 |
-0.743 | 0.041 | N | 0.428 | 0.058 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| G/A | rs370285001 |
-0.743 | 0.041 | N | 0.428 | 0.058 | None | gnomAD-4.0.0 | 1.31525E-05 | None | None | None | None | N | None | 0 | 6.55652E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| G/D | None | None | 0.324 | N | 0.553 | 0.207 | 0.152612264143 | gnomAD-4.0.0 | 1.59159E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41546E-04 | 0 | 0 | 0 |
| G/S | None | None | 0.001 | N | 0.156 | 0.043 | 0.0297737177859 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.75482E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs370285001 |
-0.489 | 0.193 | N | 0.562 | 0.15 | 0.513846082701 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/V | rs370285001 |
-0.489 | 0.193 | N | 0.562 | 0.15 | 0.513846082701 | gnomAD-4.0.0 | 6.36637E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14362E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1198 | likely_benign | 0.0999 | benign | -0.79 | Destabilizing | 0.041 | N | 0.428 | neutral | N | 0.470690429 | None | None | N |
| G/C | 0.1782 | likely_benign | 0.1357 | benign | -1.374 | Destabilizing | 0.928 | D | 0.563 | neutral | D | 0.526679784 | None | None | N |
| G/D | 0.2611 | likely_benign | 0.236 | benign | -1.838 | Destabilizing | 0.324 | N | 0.553 | neutral | N | 0.432268114 | None | None | N |
| G/E | 0.2699 | likely_benign | 0.2433 | benign | -1.909 | Destabilizing | 0.241 | N | 0.569 | neutral | None | None | None | None | N |
| G/F | 0.6163 | likely_pathogenic | 0.5146 | ambiguous | -1.316 | Destabilizing | 0.818 | D | 0.609 | neutral | None | None | None | None | N |
| G/H | 0.3861 | ambiguous | 0.3245 | benign | -1.073 | Destabilizing | 0.944 | D | 0.54 | neutral | None | None | None | None | N |
| G/I | 0.4008 | ambiguous | 0.3176 | benign | -0.565 | Destabilizing | 0.69 | D | 0.591 | neutral | None | None | None | None | N |
| G/K | 0.4427 | ambiguous | 0.3957 | ambiguous | -1.199 | Destabilizing | 0.241 | N | 0.571 | neutral | None | None | None | None | N |
| G/L | 0.3723 | ambiguous | 0.2981 | benign | -0.565 | Destabilizing | 0.241 | N | 0.572 | neutral | None | None | None | None | N |
| G/M | 0.4289 | ambiguous | 0.3372 | benign | -0.52 | Destabilizing | 0.981 | D | 0.571 | neutral | None | None | None | None | N |
| G/N | 0.2498 | likely_benign | 0.2129 | benign | -1.079 | Destabilizing | 0.241 | N | 0.54 | neutral | None | None | None | None | N |
| G/P | 0.958 | likely_pathogenic | 0.9298 | pathogenic | -0.604 | Destabilizing | 0.69 | D | 0.584 | neutral | None | None | None | None | N |
| G/Q | 0.3353 | likely_benign | 0.2853 | benign | -1.376 | Destabilizing | 0.69 | D | 0.571 | neutral | None | None | None | None | N |
| G/R | 0.3299 | likely_benign | 0.2729 | benign | -0.78 | Destabilizing | 0.627 | D | 0.575 | neutral | N | 0.454008823 | None | None | N |
| G/S | 0.0729 | likely_benign | 0.0677 | benign | -1.281 | Destabilizing | 0.001 | N | 0.156 | neutral | N | 0.40353993 | None | None | N |
| G/T | 0.1 | likely_benign | 0.0814 | benign | -1.29 | Destabilizing | None | N | 0.264 | neutral | None | None | None | None | N |
| G/V | 0.2628 | likely_benign | 0.2068 | benign | -0.604 | Destabilizing | 0.193 | N | 0.562 | neutral | N | 0.4999359 | None | None | N |
| G/W | 0.5044 | ambiguous | 0.4346 | ambiguous | -1.555 | Destabilizing | 0.981 | D | 0.541 | neutral | None | None | None | None | N |
| G/Y | 0.493 | ambiguous | 0.3953 | ambiguous | -1.163 | Destabilizing | 0.818 | D | 0.583 | 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.