Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32770 | 98533;98534;98535 | chr2:178539757;178539756;178539755 | chr2:179404484;179404483;179404482 |
| N2AB | 31129 | 93610;93611;93612 | chr2:178539757;178539756;178539755 | chr2:179404484;179404483;179404482 |
| N2A | 30202 | 90829;90830;90831 | chr2:178539757;178539756;178539755 | chr2:179404484;179404483;179404482 |
| N2B | 23705 | 71338;71339;71340 | chr2:178539757;178539756;178539755 | chr2:179404484;179404483;179404482 |
| Novex-1 | 23830 | 71713;71714;71715 | chr2:178539757;178539756;178539755 | chr2:179404484;179404483;179404482 |
| Novex-2 | 23897 | 71914;71915;71916 | chr2:178539757;178539756;178539755 | chr2:179404484;179404483;179404482 |
| 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/C | rs760728887  |
-0.611 | 0.999 | N | 0.712 | 0.466 | 0.501247319706 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| S/C | rs760728887 |
-0.611 | 0.999 | N | 0.712 | 0.466 | 0.501247319706 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85822E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1117 | likely_benign | 0.1192 | benign | -0.838 | Destabilizing | 0.76 | D | 0.409 | neutral | N | 0.500677767 | None | None | N |
| S/C | 0.1632 | likely_benign | 0.1696 | benign | -0.602 | Destabilizing | 0.999 | D | 0.712 | prob.delet. | N | 0.512323095 | None | None | N |
| S/D | 0.7892 | likely_pathogenic | 0.786 | pathogenic | -0.365 | Destabilizing | 0.953 | D | 0.489 | neutral | None | None | None | None | N |
| S/E | 0.8131 | likely_pathogenic | 0.8206 | pathogenic | -0.376 | Destabilizing | 0.953 | D | 0.501 | neutral | None | None | None | None | N |
| S/F | 0.5504 | ambiguous | 0.57 | pathogenic | -1.128 | Destabilizing | 0.991 | D | 0.787 | deleterious | D | 0.523425911 | None | None | N |
| S/G | 0.1241 | likely_benign | 0.1251 | benign | -1.066 | Destabilizing | 0.953 | D | 0.457 | neutral | None | None | None | None | N |
| S/H | 0.6829 | likely_pathogenic | 0.6907 | pathogenic | -1.552 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | None | None | None | None | N |
| S/I | 0.5515 | ambiguous | 0.5725 | pathogenic | -0.338 | Destabilizing | 0.986 | D | 0.743 | deleterious | None | None | None | None | N |
| S/K | 0.9182 | likely_pathogenic | 0.9274 | pathogenic | -0.728 | Destabilizing | 0.953 | D | 0.495 | neutral | None | None | None | None | N |
| S/L | 0.248 | likely_benign | 0.2586 | benign | -0.338 | Destabilizing | 0.91 | D | 0.594 | neutral | None | None | None | None | N |
| S/M | 0.3462 | ambiguous | 0.3631 | ambiguous | 0.054 | Stabilizing | 0.999 | D | 0.716 | prob.delet. | None | None | None | None | N |
| S/N | 0.3683 | ambiguous | 0.3556 | ambiguous | -0.705 | Destabilizing | 0.953 | D | 0.5 | neutral | None | None | None | None | N |
| S/P | 0.9517 | likely_pathogenic | 0.9556 | pathogenic | -0.472 | Destabilizing | 0.991 | D | 0.711 | prob.delet. | D | 0.523172422 | None | None | N |
| S/Q | 0.7623 | likely_pathogenic | 0.7788 | pathogenic | -0.906 | Destabilizing | 0.993 | D | 0.616 | neutral | None | None | None | None | N |
| S/R | 0.8523 | likely_pathogenic | 0.8714 | pathogenic | -0.585 | Destabilizing | 0.993 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/T | 0.1043 | likely_benign | 0.1082 | benign | -0.749 | Destabilizing | 0.079 | N | 0.25 | neutral | N | 0.508529246 | None | None | N |
| S/V | 0.5118 | ambiguous | 0.5388 | ambiguous | -0.472 | Destabilizing | 0.91 | D | 0.599 | neutral | None | None | None | None | N |
| S/W | 0.7216 | likely_pathogenic | 0.7529 | pathogenic | -1.07 | Destabilizing | 0.999 | D | 0.763 | deleterious | None | None | None | None | N |
| S/Y | 0.5273 | ambiguous | 0.5371 | ambiguous | -0.811 | Destabilizing | 0.997 | D | 0.785 | deleterious | D | 0.534946801 | 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.