Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20615 | 62068;62069;62070 | chr2:178589882;178589881;178589880 | chr2:179454609;179454608;179454607 |
| N2AB | 18974 | 57145;57146;57147 | chr2:178589882;178589881;178589880 | chr2:179454609;179454608;179454607 |
| N2A | 18047 | 54364;54365;54366 | chr2:178589882;178589881;178589880 | chr2:179454609;179454608;179454607 |
| N2B | 11550 | 34873;34874;34875 | chr2:178589882;178589881;178589880 | chr2:179454609;179454608;179454607 |
| Novex-1 | 11675 | 35248;35249;35250 | chr2:178589882;178589881;178589880 | chr2:179454609;179454608;179454607 |
| Novex-2 | 11742 | 35449;35450;35451 | chr2:178589882;178589881;178589880 | chr2:179454609;179454608;179454607 |
| 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 | rs780002348  |
-0.049 | 0.948 | N | 0.477 | 0.173 | 0.28722502521 | gnomAD-2.1.1 | 2.81E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 3.27E-05 | None | 0 | 2.66E-05 | 3.31236E-04 |
| G/A | rs780002348 |
-0.049 | 0.948 | N | 0.477 | 0.173 | 0.28722502521 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94099E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/A | rs780002348 |
-0.049 | 0.948 | N | 0.477 | 0.173 | 0.28722502521 | gnomAD-4.0.0 | 1.41007E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.43309E-05 | None | 0 | 6.72646E-04 | 1.19706E-05 | 1.34027E-05 | 2.84576E-05 |
| G/S | rs746925906 |
-0.22 | 0.956 | N | 0.418 | 0.227 | 0.297375071883 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs746925906 |
-0.22 | 0.956 | N | 0.418 | 0.227 | 0.297375071883 | gnomAD-4.0.0 | 1.59213E-06 | None | None | None | None | N | None | 0 | 2.28822E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 0.956 | N | 0.564 | 0.269 | 0.514472708086 | gnomAD-4.0.0 | 1.59214E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43308E-05 | 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 | 0.203 | likely_benign | 0.2187 | benign | -0.458 | Destabilizing | 0.948 | D | 0.477 | neutral | N | 0.456913055 | None | None | N |
| G/C | 0.443 | ambiguous | 0.4518 | ambiguous | -0.867 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.492172519 | None | None | N |
| G/D | 0.7347 | likely_pathogenic | 0.7362 | pathogenic | -0.339 | Destabilizing | 0.997 | D | 0.465 | neutral | N | 0.461086724 | None | None | N |
| G/E | 0.6978 | likely_pathogenic | 0.6998 | pathogenic | -0.467 | Destabilizing | 0.998 | D | 0.565 | neutral | None | None | None | None | N |
| G/F | 0.819 | likely_pathogenic | 0.8154 | pathogenic | -0.987 | Destabilizing | 0.995 | D | 0.695 | prob.neutral | None | None | None | None | N |
| G/H | 0.8162 | likely_pathogenic | 0.8327 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| G/I | 0.4932 | ambiguous | 0.4958 | ambiguous | -0.445 | Destabilizing | 0.99 | D | 0.654 | neutral | None | None | None | None | N |
| G/K | 0.9041 | likely_pathogenic | 0.9017 | pathogenic | -0.815 | Destabilizing | 0.995 | D | 0.531 | neutral | None | None | None | None | N |
| G/L | 0.6688 | likely_pathogenic | 0.6968 | pathogenic | -0.445 | Destabilizing | 0.967 | D | 0.525 | neutral | None | None | None | None | N |
| G/M | 0.6578 | likely_pathogenic | 0.6774 | pathogenic | -0.557 | Destabilizing | 0.84 | D | 0.473 | neutral | None | None | None | None | N |
| G/N | 0.5201 | ambiguous | 0.5781 | pathogenic | -0.49 | Destabilizing | 0.998 | D | 0.442 | neutral | None | None | None | None | N |
| G/P | 0.9416 | likely_pathogenic | 0.9407 | pathogenic | -0.413 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| G/Q | 0.7528 | likely_pathogenic | 0.7665 | pathogenic | -0.721 | Destabilizing | 0.998 | D | 0.586 | neutral | None | None | None | None | N |
| G/R | 0.8616 | likely_pathogenic | 0.8467 | pathogenic | -0.418 | Destabilizing | 0.997 | D | 0.581 | neutral | N | 0.468495486 | None | None | N |
| G/S | 0.1969 | likely_benign | 0.2179 | benign | -0.719 | Destabilizing | 0.956 | D | 0.418 | neutral | N | 0.475650744 | None | None | N |
| G/T | 0.2997 | likely_benign | 0.3308 | benign | -0.763 | Destabilizing | 0.643 | D | 0.399 | neutral | None | None | None | None | N |
| G/V | 0.3709 | ambiguous | 0.3856 | ambiguous | -0.413 | Destabilizing | 0.956 | D | 0.564 | neutral | N | 0.434884344 | None | None | N |
| G/W | 0.7928 | likely_pathogenic | 0.7796 | pathogenic | -1.164 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/Y | 0.7435 | likely_pathogenic | 0.7351 | pathogenic | -0.802 | Destabilizing | 0.999 | D | 0.693 | prob.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.