Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32854 | 98785;98786;98787 | chr2:178539505;178539504;178539503 | chr2:179404232;179404231;179404230 |
| N2AB | 31213 | 93862;93863;93864 | chr2:178539505;178539504;178539503 | chr2:179404232;179404231;179404230 |
| N2A | 30286 | 91081;91082;91083 | chr2:178539505;178539504;178539503 | chr2:179404232;179404231;179404230 |
| N2B | 23789 | 71590;71591;71592 | chr2:178539505;178539504;178539503 | chr2:179404232;179404231;179404230 |
| Novex-1 | 23914 | 71965;71966;71967 | chr2:178539505;178539504;178539503 | chr2:179404232;179404231;179404230 |
| Novex-2 | 23981 | 72166;72167;72168 | chr2:178539505;178539504;178539503 | chr2:179404232;179404231;179404230 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs958621500  |
-0.725 | 0.999 | N | 0.797 | 0.423 | 0.718403584121 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs958621500 |
-0.725 | 0.999 | N | 0.797 | 0.423 | 0.718403584121 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 3.27611E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs958621500 |
-0.725 | 0.999 | N | 0.797 | 0.423 | 0.718403584121 | gnomAD-4.0.0 | 6.19697E-06 | None | None | None | None | N | None | 0 | 1.33369E-04 | None | 0 | 0 | None | 0 | 0 | 1.69521E-06 | 0 | 0 |
| S/T | None | None | 0.989 | N | 0.434 | 0.286 | 0.185906805712 | gnomAD-4.0.0 | 2.05259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51927E-05 | None | 0 | 0 | 1.79895E-06 | 0 | 0 |
| S/Y | None | None | 0.999 | N | 0.797 | 0.423 | 0.707523986535 | gnomAD-4.0.0 | 6.84198E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99473E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1359 | likely_benign | 0.1142 | benign | -0.764 | Destabilizing | 0.543 | D | 0.287 | neutral | N | 0.521023249 | None | None | N |
| S/C | 0.1974 | likely_benign | 0.1675 | benign | -0.457 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.492100521 | None | None | N |
| S/D | 0.7985 | likely_pathogenic | 0.7706 | pathogenic | 0.2 | Stabilizing | 0.996 | D | 0.609 | neutral | None | None | None | None | N |
| S/E | 0.8034 | likely_pathogenic | 0.7667 | pathogenic | 0.242 | Stabilizing | 0.996 | D | 0.562 | neutral | None | None | None | None | N |
| S/F | 0.447 | ambiguous | 0.364 | ambiguous | -0.887 | Destabilizing | 0.999 | D | 0.797 | deleterious | N | 0.491086563 | None | None | N |
| S/G | 0.2441 | likely_benign | 0.2077 | benign | -1.046 | Destabilizing | 0.992 | D | 0.451 | neutral | None | None | None | None | N |
| S/H | 0.6152 | likely_pathogenic | 0.5521 | ambiguous | -1.363 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| S/I | 0.51 | ambiguous | 0.4126 | ambiguous | -0.11 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | N |
| S/K | 0.9345 | likely_pathogenic | 0.9138 | pathogenic | -0.353 | Destabilizing | 0.996 | D | 0.563 | neutral | None | None | None | None | N |
| S/L | 0.2902 | likely_benign | 0.2343 | benign | -0.11 | Destabilizing | 0.992 | D | 0.63 | neutral | None | None | None | None | N |
| S/M | 0.4139 | ambiguous | 0.3404 | ambiguous | -0.049 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| S/N | 0.4063 | ambiguous | 0.3416 | ambiguous | -0.437 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| S/P | 0.9416 | likely_pathogenic | 0.9201 | pathogenic | -0.294 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | N | 0.481046931 | None | None | N |
| S/Q | 0.7206 | likely_pathogenic | 0.667 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| S/R | 0.8868 | likely_pathogenic | 0.8589 | pathogenic | -0.379 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| S/T | 0.1398 | likely_benign | 0.123 | benign | -0.474 | Destabilizing | 0.989 | D | 0.434 | neutral | N | 0.423493915 | None | None | N |
| S/V | 0.3979 | ambiguous | 0.3184 | benign | -0.294 | Destabilizing | 0.998 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/W | 0.6328 | likely_pathogenic | 0.5692 | pathogenic | -0.872 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| S/Y | 0.3978 | ambiguous | 0.3336 | benign | -0.565 | Destabilizing | 0.999 | D | 0.797 | deleterious | N | 0.479819163 | 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.