Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28719 | 86380;86381;86382 | chr2:178559977;178559976;178559975 | chr2:179424704;179424703;179424702 |
| N2AB | 27078 | 81457;81458;81459 | chr2:178559977;178559976;178559975 | chr2:179424704;179424703;179424702 |
| N2A | 26151 | 78676;78677;78678 | chr2:178559977;178559976;178559975 | chr2:179424704;179424703;179424702 |
| N2B | 19654 | 59185;59186;59187 | chr2:178559977;178559976;178559975 | chr2:179424704;179424703;179424702 |
| Novex-1 | 19779 | 59560;59561;59562 | chr2:178559977;178559976;178559975 | chr2:179424704;179424703;179424702 |
| Novex-2 | 19846 | 59761;59762;59763 | chr2:178559977;178559976;178559975 | chr2:179424704;179424703;179424702 |
| 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/D | None | None | 0.001 | N | 0.323 | 0.097 | 0.383256108077 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| A/V | rs753978031  |
-0.455 | 0.062 | N | 0.481 | 0.096 | 0.296329037015 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/V | rs753978031 |
-0.455 | 0.062 | N | 0.481 | 0.096 | 0.296329037015 | gnomAD-4.0.0 | 1.59138E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.2992 | likely_benign | 0.287 | benign | -0.989 | Destabilizing | 0.824 | D | 0.475 | neutral | None | None | None | None | N |
| A/D | 0.188 | likely_benign | 0.1843 | benign | -1.267 | Destabilizing | 0.001 | N | 0.323 | neutral | N | 0.493431216 | None | None | N |
| A/E | 0.1637 | likely_benign | 0.1649 | benign | -1.257 | Destabilizing | 0.081 | N | 0.464 | neutral | None | None | None | None | N |
| A/F | 0.2428 | likely_benign | 0.2644 | benign | -1.051 | Destabilizing | 0.555 | D | 0.484 | neutral | None | None | None | None | N |
| A/G | 0.1252 | likely_benign | 0.1228 | benign | -1.317 | Destabilizing | None | N | 0.224 | neutral | N | 0.476365607 | None | None | N |
| A/H | 0.3617 | ambiguous | 0.3633 | ambiguous | -1.467 | Destabilizing | 0.824 | D | 0.47 | neutral | None | None | None | None | N |
| A/I | 0.1596 | likely_benign | 0.1865 | benign | -0.322 | Destabilizing | 0.235 | N | 0.501 | neutral | None | None | None | None | N |
| A/K | 0.3577 | ambiguous | 0.3788 | ambiguous | -1.177 | Destabilizing | 0.081 | N | 0.458 | neutral | None | None | None | None | N |
| A/L | 0.1307 | likely_benign | 0.1413 | benign | -0.322 | Destabilizing | 0.081 | N | 0.471 | neutral | None | None | None | None | N |
| A/M | 0.1243 | likely_benign | 0.1385 | benign | -0.284 | Destabilizing | 0.824 | D | 0.466 | neutral | None | None | None | None | N |
| A/N | 0.1712 | likely_benign | 0.1749 | benign | -0.998 | Destabilizing | 0.235 | N | 0.456 | neutral | None | None | None | None | N |
| A/P | 0.7254 | likely_pathogenic | 0.7238 | pathogenic | -0.51 | Destabilizing | 0.484 | N | 0.511 | neutral | N | 0.484005764 | None | None | N |
| A/Q | 0.2411 | likely_benign | 0.2464 | benign | -1.103 | Destabilizing | 0.38 | N | 0.505 | neutral | None | None | None | None | N |
| A/R | 0.3492 | ambiguous | 0.3586 | ambiguous | -0.894 | Destabilizing | 0.38 | N | 0.495 | neutral | None | None | None | None | N |
| A/S | 0.0749 | likely_benign | 0.0756 | benign | -1.413 | Destabilizing | None | N | 0.169 | neutral | N | 0.440250092 | None | None | N |
| A/T | 0.065 | likely_benign | 0.0674 | benign | -1.298 | Destabilizing | None | N | 0.201 | neutral | N | 0.368632349 | None | None | N |
| A/V | 0.094 | likely_benign | 0.1042 | benign | -0.51 | Destabilizing | 0.062 | N | 0.481 | neutral | N | 0.435729706 | None | None | N |
| A/W | 0.6111 | likely_pathogenic | 0.6296 | pathogenic | -1.447 | Destabilizing | 0.935 | D | 0.545 | neutral | None | None | None | None | N |
| A/Y | 0.3424 | ambiguous | 0.3459 | ambiguous | -1.008 | Destabilizing | 0.555 | 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.