Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21740 | 65443;65444;65445 | chr2:178584333;178584332;178584331 | chr2:179449060;179449059;179449058 |
| N2AB | 20099 | 60520;60521;60522 | chr2:178584333;178584332;178584331 | chr2:179449060;179449059;179449058 |
| N2A | 19172 | 57739;57740;57741 | chr2:178584333;178584332;178584331 | chr2:179449060;179449059;179449058 |
| N2B | 12675 | 38248;38249;38250 | chr2:178584333;178584332;178584331 | chr2:179449060;179449059;179449058 |
| Novex-1 | 12800 | 38623;38624;38625 | chr2:178584333;178584332;178584331 | chr2:179449060;179449059;179449058 |
| Novex-2 | 12867 | 38824;38825;38826 | chr2:178584333;178584332;178584331 | chr2:179449060;179449059;179449058 |
| 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/G | rs2048460076  |
None | 1.0 | N | 0.616 | 0.414 | 0.387366425376 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs2048460076 |
None | 1.0 | N | 0.616 | 0.414 | 0.387366425376 | gnomAD-4.0.0 | 6.57756E-06 | None | None | None | None | I | None | 2.41383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs2048460520 |
None | 1.0 | N | 0.775 | 0.416 | 0.396645960531 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/T | rs2048460520 |
None | 1.0 | N | 0.775 | 0.416 | 0.396645960531 | gnomAD-4.0.0 | 6.46404E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.69603E-06 | 0 | 2.86812E-05 |
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 | 0.82 | likely_pathogenic | 0.7523 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| A/D | 0.9684 | likely_pathogenic | 0.9677 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.485460568 | None | None | I |
| A/E | 0.9294 | likely_pathogenic | 0.935 | pathogenic | -0.736 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| A/F | 0.9021 | likely_pathogenic | 0.8259 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| A/G | 0.482 | ambiguous | 0.4491 | ambiguous | -0.367 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.473659736 | None | None | I |
| A/H | 0.9443 | likely_pathogenic | 0.9375 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| A/I | 0.7779 | likely_pathogenic | 0.6782 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| A/K | 0.9617 | likely_pathogenic | 0.9681 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| A/L | 0.7498 | likely_pathogenic | 0.689 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| A/M | 0.7954 | likely_pathogenic | 0.7234 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | I |
| A/N | 0.9164 | likely_pathogenic | 0.9048 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| A/P | 0.9717 | likely_pathogenic | 0.9712 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.525089346 | None | None | I |
| A/Q | 0.8953 | likely_pathogenic | 0.9006 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| A/R | 0.8987 | likely_pathogenic | 0.9186 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| A/S | 0.3292 | likely_benign | 0.2909 | benign | -0.679 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.478485582 | None | None | I |
| A/T | 0.6661 | likely_pathogenic | 0.5941 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.775 | deleterious | N | 0.492146066 | None | None | I |
| A/V | 0.4382 | ambiguous | 0.3336 | benign | -0.407 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.498047601 | None | None | I |
| A/W | 0.9846 | likely_pathogenic | 0.9775 | pathogenic | -1.012 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| A/Y | 0.9285 | likely_pathogenic | 0.8895 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.873 | deleterious | 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.