Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16481 | 49666;49667;49668 | chr2:178613842;178613841;178613840 | chr2:179478569;179478568;179478567 |
| N2AB | 14840 | 44743;44744;44745 | chr2:178613842;178613841;178613840 | chr2:179478569;179478568;179478567 |
| N2A | 13913 | 41962;41963;41964 | chr2:178613842;178613841;178613840 | chr2:179478569;179478568;179478567 |
| N2B | 7416 | 22471;22472;22473 | chr2:178613842;178613841;178613840 | chr2:179478569;179478568;179478567 |
| Novex-1 | 7541 | 22846;22847;22848 | chr2:178613842;178613841;178613840 | chr2:179478569;179478568;179478567 |
| Novex-2 | 7608 | 23047;23048;23049 | chr2:178613842;178613841;178613840 | chr2:179478569;179478568;179478567 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 1.0 | N | 0.71 | 0.394 | 0.512651460143 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.763 | 0.418 | 0.326074293725 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1322 | likely_benign | 0.1162 | benign | -0.483 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | N | 0.502367659 | None | None | I |
| P/C | 0.6903 | likely_pathogenic | 0.6588 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| P/D | 0.5743 | likely_pathogenic | 0.5673 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| P/E | 0.3357 | likely_benign | 0.337 | benign | -0.282 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| P/F | 0.7424 | likely_pathogenic | 0.7063 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | I |
| P/G | 0.5423 | ambiguous | 0.4954 | ambiguous | -0.62 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| P/H | 0.3452 | ambiguous | 0.326 | benign | -0.2 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | I |
| P/I | 0.4814 | ambiguous | 0.4247 | ambiguous | -0.275 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| P/K | 0.3494 | ambiguous | 0.3361 | benign | -0.352 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| P/L | 0.2123 | likely_benign | 0.1894 | benign | -0.275 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.636646358 | None | None | I |
| P/M | 0.452 | ambiguous | 0.4017 | ambiguous | -0.277 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| P/N | 0.5052 | ambiguous | 0.4539 | ambiguous | -0.089 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| P/Q | 0.2203 | likely_benign | 0.2078 | benign | -0.338 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.583140012 | None | None | I |
| P/R | 0.2486 | likely_benign | 0.249 | benign | 0.153 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.502340433 | None | None | I |
| P/S | 0.2396 | likely_benign | 0.216 | benign | -0.484 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.536995662 | None | None | I |
| P/T | 0.2032 | likely_benign | 0.1798 | benign | -0.493 | Destabilizing | 1.0 | D | 0.748 | deleterious | D | 0.549477604 | None | None | I |
| P/V | 0.3193 | likely_benign | 0.2716 | benign | -0.309 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| P/W | 0.8612 | likely_pathogenic | 0.8441 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | I |
| P/Y | 0.6832 | likely_pathogenic | 0.662 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | I |
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.