Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18763 | 56512;56513;56514 | chr2:178599614;178599613;178599612 | chr2:179464341;179464340;179464339 |
| N2AB | 17122 | 51589;51590;51591 | chr2:178599614;178599613;178599612 | chr2:179464341;179464340;179464339 |
| N2A | 16195 | 48808;48809;48810 | chr2:178599614;178599613;178599612 | chr2:179464341;179464340;179464339 |
| N2B | 9698 | 29317;29318;29319 | chr2:178599614;178599613;178599612 | chr2:179464341;179464340;179464339 |
| Novex-1 | 9823 | 29692;29693;29694 | chr2:178599614;178599613;178599612 | chr2:179464341;179464340;179464339 |
| Novex-2 | 9890 | 29893;29894;29895 | chr2:178599614;178599613;178599612 | chr2:179464341;179464340;179464339 |
| 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/I | rs746218913  |
-0.168 | 0.317 | N | 0.713 | 0.112 | 0.186928172975 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/I | rs746218913 |
-0.168 | 0.317 | N | 0.713 | 0.112 | 0.186928172975 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| T/I | rs746218913 |
-0.168 | 0.317 | N | 0.713 | 0.112 | 0.186928172975 | gnomAD-4.0.0 | 1.18051E-05 | None | None | None | None | N | None | 1.33915E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44355E-05 | 0 | 1.6055E-05 |
| T/N | rs746218913 |
-1.201 | 0.062 | N | 0.633 | 0.208 | 0.167679373172 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.34E-05 | None | 0 | 0 | 0 |
| T/N | rs746218913 |
-1.201 | 0.062 | N | 0.633 | 0.208 | 0.167679373172 | gnomAD-4.0.0 | 2.05834E-06 | None | None | None | None | N | None | 3.00499E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.34285E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1308 | likely_benign | 0.1181 | benign | -1.028 | Destabilizing | 0.027 | N | 0.511 | neutral | N | 0.464445208 | None | None | N |
| T/C | 0.3776 | ambiguous | 0.3128 | benign | -0.609 | Destabilizing | 0.824 | D | 0.656 | neutral | None | None | None | None | N |
| T/D | 0.7455 | likely_pathogenic | 0.7118 | pathogenic | -1.434 | Destabilizing | 0.081 | N | 0.681 | prob.neutral | None | None | None | None | N |
| T/E | 0.5097 | ambiguous | 0.4723 | ambiguous | -1.19 | Destabilizing | 0.081 | N | 0.663 | neutral | None | None | None | None | N |
| T/F | 0.4004 | ambiguous | 0.336 | benign | -0.654 | Destabilizing | 0.555 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/G | 0.3828 | ambiguous | 0.327 | benign | -1.467 | Destabilizing | 0.081 | N | 0.643 | neutral | None | None | None | None | N |
| T/H | 0.3964 | ambiguous | 0.3562 | ambiguous | -1.52 | Destabilizing | 0.555 | D | 0.677 | prob.neutral | None | None | None | None | N |
| T/I | 0.2529 | likely_benign | 0.2163 | benign | 0.141 | Stabilizing | 0.317 | N | 0.713 | prob.delet. | N | 0.507274799 | None | None | N |
| T/K | 0.3966 | ambiguous | 0.3686 | ambiguous | -0.191 | Destabilizing | 0.081 | N | 0.64 | neutral | None | None | None | None | N |
| T/L | 0.1819 | likely_benign | 0.1553 | benign | 0.141 | Stabilizing | 0.149 | N | 0.652 | neutral | None | None | None | None | N |
| T/M | 0.1265 | likely_benign | 0.1116 | benign | -0.054 | Destabilizing | 0.791 | D | 0.67 | neutral | None | None | None | None | N |
| T/N | 0.2751 | likely_benign | 0.2527 | benign | -1.019 | Destabilizing | 0.062 | N | 0.633 | neutral | N | 0.482411332 | None | None | N |
| T/P | 0.8484 | likely_pathogenic | 0.8519 | pathogenic | -0.218 | Destabilizing | 0.317 | N | 0.717 | prob.delet. | N | 0.509162867 | None | None | N |
| T/Q | 0.3483 | ambiguous | 0.3172 | benign | -0.688 | Destabilizing | 0.38 | N | 0.715 | prob.delet. | None | None | None | None | N |
| T/R | 0.3391 | likely_benign | 0.306 | benign | -0.566 | Destabilizing | 0.001 | N | 0.519 | neutral | None | None | None | None | N |
| T/S | 0.1564 | likely_benign | 0.1461 | benign | -1.228 | Destabilizing | None | N | 0.249 | neutral | N | 0.475605098 | None | None | N |
| T/V | 0.1835 | likely_benign | 0.1621 | benign | -0.218 | Destabilizing | 0.149 | N | 0.631 | neutral | None | None | None | None | N |
| T/W | 0.7476 | likely_pathogenic | 0.7102 | pathogenic | -0.876 | Destabilizing | 0.935 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/Y | 0.4255 | ambiguous | 0.3755 | ambiguous | -0.43 | Destabilizing | 0.555 | D | 0.686 | 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.