Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3661 | 11206;11207;11208 | chr2:178756495;178756494;178756493 | chr2:179621222;179621221;179621220 |
| 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 | 3490 | 10693;10694;10695 | chr2:178756495;178756494;178756493 | chr2:179621222;179621221;179621220 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs749398811  |
0.226 | None | None | None | 0.095 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/N | rs368025093 |
None | None | None | None | 0.084 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/N | rs368025093 |
None | None | None | None | 0.084 | None | gnomAD-4.0.0 | 3.0444E-06 | None | None | None | None | I | None | 5.23049E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| K/T | rs2087010356 |
None | None | None | None | 0.09 | None | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.1827 | likely_benign | None | None | -0.152 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/C | 0.5698 | likely_pathogenic | None | None | -0.288 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/D | 0.2741 | likely_benign | None | None | -0.152 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/E | 0.0833 | likely_benign | None | None | -0.083 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/F | 0.6466 | likely_pathogenic | None | None | -0.048 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/G | 0.2804 | likely_benign | None | None | -0.433 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/H | 0.2412 | likely_benign | None | None | -0.654 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/I | 0.2449 | likely_benign | None | None | 0.54 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/L | 0.2603 | likely_benign | None | None | 0.54 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/M | 0.17 | likely_benign | None | None | 0.1 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/N | 0.195 | likely_benign | None | None | -0.084 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/P | 0.5592 | ambiguous | None | None | 0.338 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/Q | 0.0961 | likely_benign | None | None | -0.127 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/R | 0.083 | likely_benign | None | None | -0.278 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/S | 0.2048 | likely_benign | None | None | -0.514 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/T | 0.1091 | likely_benign | None | None | -0.273 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/V | 0.2123 | likely_benign | None | None | 0.338 | Stabilizing | None | None | None | None | None | None | None | None | I |
| K/W | 0.6899 | likely_pathogenic | None | None | -0.075 | Destabilizing | None | None | None | None | None | None | None | None | I |
| K/Y | 0.4902 | ambiguous | None | None | 0.232 | Stabilizing | None | None | None | None | 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.