Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20030 | 60313;60314;60315 | chr2:178591731;178591730;178591729 | chr2:179456458;179456457;179456456 |
| N2AB | 18389 | 55390;55391;55392 | chr2:178591731;178591730;178591729 | chr2:179456458;179456457;179456456 |
| N2A | 17462 | 52609;52610;52611 | chr2:178591731;178591730;178591729 | chr2:179456458;179456457;179456456 |
| N2B | 10965 | 33118;33119;33120 | chr2:178591731;178591730;178591729 | chr2:179456458;179456457;179456456 |
| Novex-1 | 11090 | 33493;33494;33495 | chr2:178591731;178591730;178591729 | chr2:179456458;179456457;179456456 |
| Novex-2 | 11157 | 33694;33695;33696 | chr2:178591731;178591730;178591729 | chr2:179456458;179456457;179456456 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs775292311  |
-0.359 | 0.997 | N | 0.549 | 0.385 | 0.605930529564 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/L | rs775292311 |
-0.359 | 0.997 | N | 0.549 | 0.385 | 0.605930529564 | gnomAD-4.0.0 | 1.59209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85976E-06 | 0 | 0 |
| V/M | rs775292311 |
-0.471 | 1.0 | N | 0.757 | 0.397 | 0.639540451167 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/M | rs775292311 |
-0.471 | 1.0 | N | 0.757 | 0.397 | 0.639540451167 | gnomAD-4.0.0 | 1.59209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85976E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3797 | ambiguous | 0.3908 | ambiguous | -1.626 | Destabilizing | 0.999 | D | 0.562 | neutral | N | 0.480140969 | None | None | N |
| V/C | 0.8615 | likely_pathogenic | 0.8781 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/D | 0.79 | likely_pathogenic | 0.8242 | pathogenic | -1.255 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| V/E | 0.6599 | likely_pathogenic | 0.692 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.480786079 | None | None | N |
| V/F | 0.529 | ambiguous | 0.5684 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/G | 0.5672 | likely_pathogenic | 0.6036 | pathogenic | -2.053 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.514766493 | None | None | N |
| V/H | 0.9143 | likely_pathogenic | 0.926 | pathogenic | -1.598 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/I | 0.1165 | likely_benign | 0.1198 | benign | -0.511 | Destabilizing | 0.998 | D | 0.494 | neutral | None | None | None | None | N |
| V/K | 0.7954 | likely_pathogenic | 0.8252 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/L | 0.4772 | ambiguous | 0.5219 | ambiguous | -0.511 | Destabilizing | 0.997 | D | 0.549 | neutral | N | 0.520847103 | None | None | N |
| V/M | 0.3086 | likely_benign | 0.3385 | benign | -0.467 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.508666931 | None | None | N |
| V/N | 0.6458 | likely_pathogenic | 0.7023 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| V/P | 0.965 | likely_pathogenic | 0.9714 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| V/Q | 0.7238 | likely_pathogenic | 0.7522 | pathogenic | -1.156 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| V/R | 0.7987 | likely_pathogenic | 0.8215 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| V/S | 0.4632 | ambiguous | 0.5082 | ambiguous | -1.812 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/T | 0.2897 | likely_benign | 0.3107 | benign | -1.582 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| V/W | 0.9858 | likely_pathogenic | 0.9879 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| V/Y | 0.9139 | likely_pathogenic | 0.9269 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.785 | deleterious | 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.