Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20239 | 60940;60941;60942 | chr2:178591010;178591009;178591008 | chr2:179455737;179455736;179455735 |
| N2AB | 18598 | 56017;56018;56019 | chr2:178591010;178591009;178591008 | chr2:179455737;179455736;179455735 |
| N2A | 17671 | 53236;53237;53238 | chr2:178591010;178591009;178591008 | chr2:179455737;179455736;179455735 |
| N2B | 11174 | 33745;33746;33747 | chr2:178591010;178591009;178591008 | chr2:179455737;179455736;179455735 |
| Novex-1 | 11299 | 34120;34121;34122 | chr2:178591010;178591009;178591008 | chr2:179455737;179455736;179455735 |
| Novex-2 | 11366 | 34321;34322;34323 | chr2:178591010;178591009;178591008 | chr2:179455737;179455736;179455735 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.715 | 0.424 | 0.447609009685 | 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 |
| G/R | None | None | 1.0 | D | 0.863 | 0.5 | 0.821548129596 | gnomAD-4.0.0 | 4.10599E-06 | None | None | None | None | N | None | 0 | 0 | None | 3.8276E-05 | 0 | None | 0 | 0 | 4.49811E-06 | 0 | 0 |
| G/S | rs2050095324  |
None | 1.0 | N | 0.803 | 0.443 | 0.430923071578 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs2050095324 |
None | 1.0 | N | 0.803 | 0.443 | 0.430923071578 | gnomAD-4.0.0 | 3.719E-06 | None | None | None | None | N | None | 1.33565E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23886E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4523 | ambiguous | 0.4493 | ambiguous | -0.478 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.503700771 | None | None | N |
| G/C | 0.5164 | ambiguous | 0.4926 | ambiguous | -0.848 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.54802681 | None | None | N |
| G/D | 0.1605 | likely_benign | 0.1484 | benign | -1.029 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.485570062 | None | None | N |
| G/E | 0.4028 | ambiguous | 0.4073 | ambiguous | -1.172 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/F | 0.8282 | likely_pathogenic | 0.8191 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/H | 0.6577 | likely_pathogenic | 0.6317 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/I | 0.7972 | likely_pathogenic | 0.7811 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/K | 0.8203 | likely_pathogenic | 0.8117 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/L | 0.8137 | likely_pathogenic | 0.7942 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/M | 0.8069 | likely_pathogenic | 0.7816 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/N | 0.2442 | likely_benign | 0.229 | benign | -0.748 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/P | 0.9821 | likely_pathogenic | 0.9766 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Q | 0.6466 | likely_pathogenic | 0.6368 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/R | 0.7313 | likely_pathogenic | 0.7296 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.523882167 | None | None | N |
| G/S | 0.2109 | likely_benign | 0.2171 | benign | -0.87 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.504003486 | None | None | N |
| G/T | 0.4988 | ambiguous | 0.4866 | ambiguous | -0.952 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/V | 0.6968 | likely_pathogenic | 0.6803 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.515425924 | None | None | N |
| G/W | 0.6657 | likely_pathogenic | 0.6447 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/Y | 0.6052 | likely_pathogenic | 0.5867 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.815 | 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.