Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35611 | 107056;107057;107058 | chr2:178528920;178528919;178528918 | chr2:179393647;179393646;179393645 |
| N2AB | 33970 | 102133;102134;102135 | chr2:178528920;178528919;178528918 | chr2:179393647;179393646;179393645 |
| N2A | 33043 | 99352;99353;99354 | chr2:178528920;178528919;178528918 | chr2:179393647;179393646;179393645 |
| N2B | 26546 | 79861;79862;79863 | chr2:178528920;178528919;178528918 | chr2:179393647;179393646;179393645 |
| Novex-1 | 26671 | 80236;80237;80238 | chr2:178528920;178528919;178528918 | chr2:179393647;179393646;179393645 |
| Novex-2 | 26738 | 80437;80438;80439 | chr2:178528920;178528919;178528918 | chr2:179393647;179393646;179393645 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | None | None | 0.22 | N | 0.588 | 0.186 | 0.443285836454 | gnomAD-4.0.0 | 6.84139E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99395E-07 | 0 | 0 |
| A/G | None | None | 0.055 | N | 0.516 | 0.145 | 0.250039746154 | gnomAD-4.0.0 | 6.84139E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99395E-07 | 0 | 0 |
| A/P | rs1304855425  |
0.355 | 0.667 | N | 0.65 | 0.236 | 0.308904156042 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| A/P | rs1304855425 |
0.355 | 0.667 | N | 0.65 | 0.236 | 0.308904156042 | gnomAD-4.0.0 | 2.52068E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.23125E-05 | 0 | 1.46531E-04 |
| A/V | None | None | 0.124 | N | 0.516 | 0.123 | 0.374434639691 | gnomAD-4.0.0 | 6.84139E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99395E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7563 | likely_pathogenic | 0.6842 | pathogenic | -0.697 | Destabilizing | 0.909 | D | 0.617 | neutral | None | None | None | None | N |
| A/D | 0.4227 | ambiguous | 0.2951 | benign | -0.492 | Destabilizing | 0.567 | D | 0.628 | neutral | None | None | None | None | N |
| A/E | 0.3902 | ambiguous | 0.2945 | benign | -0.599 | Destabilizing | 0.22 | N | 0.588 | neutral | N | 0.478184909 | None | None | N |
| A/F | 0.5161 | ambiguous | 0.3878 | ambiguous | -0.819 | Destabilizing | 0.726 | D | 0.712 | prob.delet. | None | None | None | None | N |
| A/G | 0.1798 | likely_benign | 0.1506 | benign | -0.6 | Destabilizing | 0.055 | N | 0.516 | neutral | N | 0.479051701 | None | None | N |
| A/H | 0.6759 | likely_pathogenic | 0.5526 | ambiguous | -0.668 | Destabilizing | 0.968 | D | 0.697 | prob.neutral | None | None | None | None | N |
| A/I | 0.3776 | ambiguous | 0.2681 | benign | -0.27 | Destabilizing | 0.396 | N | 0.631 | neutral | None | None | None | None | N |
| A/K | 0.6371 | likely_pathogenic | 0.513 | ambiguous | -0.847 | Destabilizing | 0.272 | N | 0.581 | neutral | None | None | None | None | N |
| A/L | 0.3198 | likely_benign | 0.224 | benign | -0.27 | Destabilizing | 0.157 | N | 0.542 | neutral | None | None | None | None | N |
| A/M | 0.4023 | ambiguous | 0.294 | benign | -0.347 | Destabilizing | 0.909 | D | 0.671 | neutral | None | None | None | None | N |
| A/N | 0.3543 | ambiguous | 0.2514 | benign | -0.456 | Destabilizing | 0.567 | D | 0.628 | neutral | None | None | None | None | N |
| A/P | 0.2988 | likely_benign | 0.2174 | benign | -0.295 | Destabilizing | 0.667 | D | 0.65 | neutral | N | 0.479745134 | None | None | N |
| A/Q | 0.5364 | ambiguous | 0.4222 | ambiguous | -0.673 | Destabilizing | 0.726 | D | 0.699 | prob.neutral | None | None | None | None | N |
| A/R | 0.5649 | likely_pathogenic | 0.4577 | ambiguous | -0.433 | Destabilizing | 0.567 | D | 0.671 | neutral | None | None | None | None | N |
| A/S | 0.1224 | likely_benign | 0.1028 | benign | -0.724 | Destabilizing | 0.002 | N | 0.187 | neutral | N | 0.459945865 | None | None | N |
| A/T | 0.1257 | likely_benign | 0.0944 | benign | -0.741 | Destabilizing | 0.001 | N | 0.328 | neutral | N | 0.477491476 | None | None | N |
| A/V | 0.1773 | likely_benign | 0.1296 | benign | -0.295 | Destabilizing | 0.124 | N | 0.516 | neutral | N | 0.479051701 | None | None | N |
| A/W | 0.8735 | likely_pathogenic | 0.7868 | pathogenic | -1.031 | Destabilizing | 0.968 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/Y | 0.6074 | likely_pathogenic | 0.4799 | ambiguous | -0.669 | Destabilizing | 0.726 | D | 0.711 | prob.delet. | 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.