Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28803 | 86632;86633;86634 | chr2:178559725;178559724;178559723 | chr2:179424452;179424451;179424450 |
| N2AB | 27162 | 81709;81710;81711 | chr2:178559725;178559724;178559723 | chr2:179424452;179424451;179424450 |
| N2A | 26235 | 78928;78929;78930 | chr2:178559725;178559724;178559723 | chr2:179424452;179424451;179424450 |
| N2B | 19738 | 59437;59438;59439 | chr2:178559725;178559724;178559723 | chr2:179424452;179424451;179424450 |
| Novex-1 | 19863 | 59812;59813;59814 | chr2:178559725;178559724;178559723 | chr2:179424452;179424451;179424450 |
| Novex-2 | 19930 | 60013;60014;60015 | chr2:178559725;178559724;178559723 | chr2:179424452;179424451;179424450 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | 0.027 | N | 0.401 | 0.127 | 0.146414634003 | gnomAD-4.0.0 | 1.6242E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.91566E-06 | 0 | 0 |
| T/I | rs758807133  |
-0.161 | 0.062 | D | 0.467 | 0.183 | 0.368554958709 | gnomAD-2.1.1 | 8.42E-06 | None | None | None | None | I | None | 0 | 2.98E-05 | None | 0 | 0 | None | 0 | None | 0 | 9.25E-06 | 0 |
| T/I | rs758807133 |
-0.161 | 0.062 | D | 0.467 | 0.183 | 0.368554958709 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/I | rs758807133 |
-0.161 | 0.062 | D | 0.467 | 0.183 | 0.368554958709 | gnomAD-4.0.0 | 7.49518E-06 | None | None | None | None | I | None | 0 | 1.68765E-05 | None | 0 | 0 | None | 0 | 0 | 8.52576E-06 | 1.12651E-05 | 0 |
| T/N | rs758807133 |
None | 0.002 | N | 0.285 | 0.161 | 0.28798054836 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/N | rs758807133 |
None | 0.002 | N | 0.285 | 0.161 | 0.28798054836 | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0738 | likely_benign | 0.0722 | benign | -0.669 | Destabilizing | 0.027 | N | 0.401 | neutral | N | 0.493223974 | None | None | I |
| T/C | 0.2586 | likely_benign | 0.2543 | benign | -0.359 | Destabilizing | 0.824 | D | 0.476 | neutral | None | None | None | None | I |
| T/D | 0.4128 | ambiguous | 0.4122 | ambiguous | 0.034 | Stabilizing | 0.081 | N | 0.445 | neutral | None | None | None | None | I |
| T/E | 0.3848 | ambiguous | 0.3762 | ambiguous | -0.015 | Destabilizing | 0.081 | N | 0.447 | neutral | None | None | None | None | I |
| T/F | 0.2411 | likely_benign | 0.2309 | benign | -1.01 | Destabilizing | 0.555 | D | 0.583 | neutral | None | None | None | None | I |
| T/G | 0.1963 | likely_benign | 0.1902 | benign | -0.855 | Destabilizing | 0.081 | N | 0.56 | neutral | None | None | None | None | I |
| T/H | 0.2629 | likely_benign | 0.2664 | benign | -1.186 | Destabilizing | 0.555 | D | 0.566 | neutral | None | None | None | None | I |
| T/I | 0.1508 | likely_benign | 0.1444 | benign | -0.286 | Destabilizing | 0.062 | N | 0.467 | neutral | D | 0.522418476 | None | None | I |
| T/K | 0.324 | likely_benign | 0.3292 | benign | -0.527 | Destabilizing | 0.081 | N | 0.446 | neutral | None | None | None | None | I |
| T/L | 0.1223 | likely_benign | 0.1188 | benign | -0.286 | Destabilizing | 0.035 | N | 0.465 | neutral | None | None | None | None | I |
| T/M | 0.0978 | likely_benign | 0.0939 | benign | 0.052 | Stabilizing | 0.555 | D | 0.482 | neutral | None | None | None | None | I |
| T/N | 0.113 | likely_benign | 0.1174 | benign | -0.35 | Destabilizing | 0.002 | N | 0.285 | neutral | N | 0.479088986 | None | None | I |
| T/P | 0.289 | likely_benign | 0.2956 | benign | -0.383 | Destabilizing | 0.317 | N | 0.497 | neutral | N | 0.489010919 | None | None | I |
| T/Q | 0.279 | likely_benign | 0.2821 | benign | -0.591 | Destabilizing | 0.38 | N | 0.503 | neutral | None | None | None | None | I |
| T/R | 0.2689 | likely_benign | 0.2723 | benign | -0.253 | Destabilizing | 0.38 | N | 0.496 | neutral | None | None | None | None | I |
| T/S | 0.0841 | likely_benign | 0.0813 | benign | -0.618 | Destabilizing | None | N | 0.259 | neutral | D | 0.525765425 | None | None | I |
| T/V | 0.1229 | likely_benign | 0.1212 | benign | -0.383 | Destabilizing | 0.001 | N | 0.319 | neutral | None | None | None | None | I |
| T/W | 0.6112 | likely_pathogenic | 0.5797 | pathogenic | -0.939 | Destabilizing | 0.935 | D | 0.604 | neutral | None | None | None | None | I |
| T/Y | 0.2554 | likely_benign | 0.2368 | benign | -0.69 | Destabilizing | 0.555 | D | 0.575 | neutral | None | None | None | None | I |
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.