Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16547 | 49864;49865;49866 | chr2:178613170;178613169;178613168 | chr2:179477897;179477896;179477895 |
| N2AB | 14906 | 44941;44942;44943 | chr2:178613170;178613169;178613168 | chr2:179477897;179477896;179477895 |
| N2A | 13979 | 42160;42161;42162 | chr2:178613170;178613169;178613168 | chr2:179477897;179477896;179477895 |
| N2B | 7482 | 22669;22670;22671 | chr2:178613170;178613169;178613168 | chr2:179477897;179477896;179477895 |
| Novex-1 | 7607 | 23044;23045;23046 | chr2:178613170;178613169;178613168 | chr2:179477897;179477896;179477895 |
| Novex-2 | 7674 | 23245;23246;23247 | chr2:178613170;178613169;178613168 | chr2:179477897;179477896;179477895 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs767765903  |
0.125 | 0.999 | N | 0.464 | 0.147 | 0.311387274539 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.37E-05 | None | 0 | 0 | 0 |
| D/E | rs767765903 |
0.125 | 0.999 | N | 0.464 | 0.147 | 0.311387274539 | gnomAD-4.0.0 | 1.60075E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.45476E-05 | 0 |
| D/N | None | None | 1.0 | N | 0.789 | 0.316 | 0.33835085245 | gnomAD-4.0.0 | 6.85931E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.17335E-05 | 0 |
| D/Y | None | None | 1.0 | D | 0.833 | 0.456 | 0.72327570688 | gnomAD-4.0.0 | 2.74373E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60179E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9023 | likely_pathogenic | 0.92 | pathogenic | -0.16 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.503387239 | None | None | N |
| D/C | 0.9935 | likely_pathogenic | 0.9938 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| D/E | 0.8309 | likely_pathogenic | 0.794 | pathogenic | -0.213 | Destabilizing | 0.999 | D | 0.464 | neutral | N | 0.496371598 | None | None | N |
| D/F | 0.9844 | likely_pathogenic | 0.9857 | pathogenic | -0.169 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/G | 0.9409 | likely_pathogenic | 0.9561 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.506388446 | None | None | N |
| D/H | 0.9643 | likely_pathogenic | 0.9701 | pathogenic | 0.09 | Stabilizing | 1.0 | D | 0.895 | deleterious | D | 0.557828307 | None | None | N |
| D/I | 0.9799 | likely_pathogenic | 0.9834 | pathogenic | 0.226 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/K | 0.9835 | likely_pathogenic | 0.9879 | pathogenic | 0.319 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/L | 0.9541 | likely_pathogenic | 0.9632 | pathogenic | 0.226 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/M | 0.9896 | likely_pathogenic | 0.9908 | pathogenic | 0.237 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| D/N | 0.654 | likely_pathogenic | 0.7223 | pathogenic | 0.124 | Stabilizing | 1.0 | D | 0.789 | deleterious | N | 0.498616363 | None | None | N |
| D/P | 0.9768 | likely_pathogenic | 0.9807 | pathogenic | 0.119 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/Q | 0.9781 | likely_pathogenic | 0.982 | pathogenic | 0.138 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/R | 0.9888 | likely_pathogenic | 0.9913 | pathogenic | 0.497 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/S | 0.8213 | likely_pathogenic | 0.8551 | pathogenic | -0.004 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/T | 0.9551 | likely_pathogenic | 0.9608 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/V | 0.9429 | likely_pathogenic | 0.9547 | pathogenic | 0.119 | Stabilizing | 1.0 | D | 0.795 | deleterious | D | 0.53292362 | None | None | N |
| D/W | 0.9966 | likely_pathogenic | 0.9972 | pathogenic | -0.081 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/Y | 0.8738 | likely_pathogenic | 0.9019 | pathogenic | 0.056 | Stabilizing | 1.0 | D | 0.833 | deleterious | D | 0.582904669 | 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.