Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24415 | 73468;73469;73470 | chr2:178572889;178572888;178572887 | chr2:179437616;179437615;179437614 |
| N2AB | 22774 | 68545;68546;68547 | chr2:178572889;178572888;178572887 | chr2:179437616;179437615;179437614 |
| N2A | 21847 | 65764;65765;65766 | chr2:178572889;178572888;178572887 | chr2:179437616;179437615;179437614 |
| N2B | 15350 | 46273;46274;46275 | chr2:178572889;178572888;178572887 | chr2:179437616;179437615;179437614 |
| Novex-1 | 15475 | 46648;46649;46650 | chr2:178572889;178572888;178572887 | chr2:179437616;179437615;179437614 |
| Novex-2 | 15542 | 46849;46850;46851 | chr2:178572889;178572888;178572887 | chr2:179437616;179437615;179437614 |
| 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 | rs776473891  |
0.018 | 0.981 | N | 0.603 | 0.363 | 0.35139820857 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs776473891 |
0.018 | 0.981 | N | 0.603 | 0.363 | 0.35139820857 | gnomAD-4.0.0 | 1.36873E-06 | None | None | None | None | N | None | 0 | 2.23694E-05 | None | 0 | 0 | None | 0 | 0 | 8.99588E-07 | 0 | 0 |
| G/R | rs761774167 |
-0.351 | 0.995 | N | 0.817 | 0.416 | 0.465891899173 | 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/R | rs761774167 |
-0.351 | 0.995 | N | 0.817 | 0.416 | 0.465891899173 | gnomAD-4.0.0 | 1.59215E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85953E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.2342 | likely_benign | 0.2066 | benign | -0.295 | Destabilizing | 0.981 | D | 0.603 | neutral | N | 0.500991746 | None | None | N |
| G/C | 0.3864 | ambiguous | 0.3425 | ambiguous | -0.869 | Destabilizing | 1.0 | D | 0.725 | deleterious | None | None | None | None | N |
| G/D | 0.3771 | ambiguous | 0.3295 | benign | -0.678 | Destabilizing | 0.992 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/E | 0.401 | ambiguous | 0.3357 | benign | -0.817 | Destabilizing | 0.465 | N | 0.569 | neutral | N | 0.489724481 | None | None | N |
| G/F | 0.7897 | likely_pathogenic | 0.744 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/H | 0.6798 | likely_pathogenic | 0.6322 | pathogenic | -0.629 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| G/I | 0.5889 | likely_pathogenic | 0.51 | ambiguous | -0.349 | Destabilizing | 0.999 | D | 0.79 | deleterious | None | None | None | None | N |
| G/K | 0.7612 | likely_pathogenic | 0.6948 | pathogenic | -0.957 | Destabilizing | 0.992 | D | 0.804 | deleterious | None | None | None | None | N |
| G/L | 0.6628 | likely_pathogenic | 0.6102 | pathogenic | -0.349 | Destabilizing | 0.996 | D | 0.815 | deleterious | None | None | None | None | N |
| G/M | 0.7023 | likely_pathogenic | 0.6409 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.72 | deleterious | None | None | None | None | N |
| G/N | 0.4329 | ambiguous | 0.399 | ambiguous | -0.605 | Destabilizing | 0.996 | D | 0.777 | deleterious | None | None | None | None | N |
| G/P | 0.9227 | likely_pathogenic | 0.8979 | pathogenic | -0.296 | Destabilizing | 0.998 | D | 0.819 | deleterious | None | None | None | None | N |
| G/Q | 0.5608 | ambiguous | 0.4968 | ambiguous | -0.844 | Destabilizing | 0.992 | D | 0.819 | deleterious | None | None | None | None | N |
| G/R | 0.65 | likely_pathogenic | 0.5857 | pathogenic | -0.546 | Destabilizing | 0.995 | D | 0.817 | deleterious | N | 0.512094562 | None | None | N |
| G/S | 0.1626 | likely_benign | 0.1529 | benign | -0.726 | Destabilizing | 0.996 | D | 0.751 | deleterious | None | None | None | None | N |
| G/T | 0.312 | likely_benign | 0.274 | benign | -0.792 | Destabilizing | 0.996 | D | 0.806 | deleterious | None | None | None | None | N |
| G/V | 0.4063 | ambiguous | 0.3411 | ambiguous | -0.296 | Destabilizing | 0.997 | D | 0.82 | deleterious | N | 0.501752214 | None | None | N |
| G/W | 0.7719 | likely_pathogenic | 0.7189 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.705 | prob.delet. | None | None | None | None | N |
| G/Y | 0.7035 | likely_pathogenic | 0.6594 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.807 | deleterious | 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.