Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16266 | 49021;49022;49023 | chr2:178614718;178614717;178614716 | chr2:179479445;179479444;179479443 |
| N2AB | 14625 | 44098;44099;44100 | chr2:178614718;178614717;178614716 | chr2:179479445;179479444;179479443 |
| N2A | 13698 | 41317;41318;41319 | chr2:178614718;178614717;178614716 | chr2:179479445;179479444;179479443 |
| N2B | 7201 | 21826;21827;21828 | chr2:178614718;178614717;178614716 | chr2:179479445;179479444;179479443 |
| Novex-1 | 7326 | 22201;22202;22203 | chr2:178614718;178614717;178614716 | chr2:179479445;179479444;179479443 |
| Novex-2 | 7393 | 22402;22403;22404 | chr2:178614718;178614717;178614716 | chr2:179479445;179479444;179479443 |
| 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/D | rs2056981023  |
None | 1.0 | N | 0.805 | 0.454 | 0.312001716656 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| A/D | rs2056981023 |
None | 1.0 | N | 0.805 | 0.454 | 0.312001716656 | gnomAD-4.0.0 | 6.58267E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| A/S | rs1189172328 |
None | 1.0 | N | 0.626 | 0.224 | 0.180583059064 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.671 | 0.28 | 0.255777322467 | gnomAD-4.0.0 | 1.59811E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86822E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7844 | likely_pathogenic | 0.8339 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/D | 0.8164 | likely_pathogenic | 0.8675 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.445343153 | None | None | N |
| A/E | 0.7357 | likely_pathogenic | 0.8101 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| A/F | 0.8595 | likely_pathogenic | 0.896 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| A/G | 0.3234 | likely_benign | 0.4226 | ambiguous | -0.229 | Destabilizing | 1.0 | D | 0.63 | neutral | N | 0.448528914 | None | None | N |
| A/H | 0.8343 | likely_pathogenic | 0.8835 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| A/I | 0.8718 | likely_pathogenic | 0.9143 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/K | 0.8724 | likely_pathogenic | 0.9225 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/L | 0.5355 | ambiguous | 0.6335 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| A/M | 0.6964 | likely_pathogenic | 0.792 | pathogenic | -0.526 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/N | 0.6311 | likely_pathogenic | 0.7669 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| A/P | 0.8745 | likely_pathogenic | 0.906 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.442445957 | None | None | N |
| A/Q | 0.6037 | likely_pathogenic | 0.7152 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/R | 0.7863 | likely_pathogenic | 0.8394 | pathogenic | -0.18 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/S | 0.1882 | likely_benign | 0.2396 | benign | -0.526 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.434525368 | None | None | N |
| A/T | 0.414 | ambiguous | 0.5294 | ambiguous | -0.587 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.44606374 | None | None | N |
| A/V | 0.6116 | likely_pathogenic | 0.7024 | pathogenic | -0.24 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.450634093 | None | None | N |
| A/W | 0.9661 | likely_pathogenic | 0.9715 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| A/Y | 0.8912 | likely_pathogenic | 0.9151 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.79 | 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.