Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3711 | 11356;11357;11358 | chr2:178756345;178756344;178756343 | chr2:179621072;179621071;179621070 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3540 | 10843;10844;10845 | chr2:178756345;178756344;178756343 | chr2:179621072;179621071;179621070 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/S | None | None | None | None | None | 0.076 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1785 | likely_benign | None | None | -0.425 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.2328 | likely_benign | None | None | 0.139 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.0878 | likely_benign | None | None | 0.372 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/E | 0.1912 | likely_benign | None | None | 0.346 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.3995 | ambiguous | None | None | -0.867 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.2483 | likely_benign | None | None | -0.581 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.0925 | likely_benign | None | None | -0.479 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/I | 0.1474 | likely_benign | None | None | -0.104 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/K | 0.1454 | likely_benign | None | None | 0.169 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/L | 0.1991 | likely_benign | None | None | -0.104 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.2596 | likely_benign | None | None | 0.063 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.5824 | likely_pathogenic | None | None | -0.185 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.1984 | likely_benign | None | None | -0.316 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.174 | likely_benign | None | None | 0.242 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.087 | likely_benign | None | None | -0.19 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/T | 0.1123 | likely_benign | None | None | -0.062 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/V | 0.172 | likely_benign | None | None | -0.185 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.5734 | likely_pathogenic | None | None | -0.863 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.1122 | likely_benign | None | None | -0.578 | Destabilizing | None | None | None | None | 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.