Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3668 | 11227;11228;11229 | chr2:178756474;178756473;178756472 | chr2:179621201;179621200;179621199 |
| 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 | 3497 | 10714;10715;10716 | chr2:178756474;178756473;178756472 | chr2:179621201;179621200;179621199 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs2086998453  |
None | None | None | None | 0.188 | None | gnomAD-4.0.0 | 1.59133E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85817E-06 | 0 | 0 |
| D/V | None | None | None | None | None | 0.171 | None | gnomAD-4.0.0 | 6.84217E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9946E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.3286 | likely_benign | None | None | -0.294 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/C | 0.87 | likely_pathogenic | None | None | -0.02 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/E | 0.3318 | likely_benign | None | None | -0.379 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/F | 0.8876 | likely_pathogenic | None | None | -0.044 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/G | 0.2492 | likely_benign | None | None | -0.541 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/H | 0.4942 | ambiguous | None | None | 0.071 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/I | 0.7703 | likely_pathogenic | None | None | 0.32 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/K | 0.5952 | likely_pathogenic | None | None | 0.334 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/L | 0.7563 | likely_pathogenic | None | None | 0.32 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/M | 0.8813 | likely_pathogenic | None | None | 0.427 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/N | 0.1307 | likely_benign | None | None | -0.149 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/P | 0.6773 | likely_pathogenic | None | None | 0.139 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/Q | 0.6446 | likely_pathogenic | None | None | -0.076 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/R | 0.6497 | likely_pathogenic | None | None | 0.538 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/S | 0.2351 | likely_benign | None | None | -0.245 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/T | 0.4872 | ambiguous | None | None | -0.042 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/V | 0.5523 | ambiguous | None | None | 0.139 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/W | 0.9683 | likely_pathogenic | None | None | 0.144 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/Y | 0.4599 | ambiguous | None | None | 0.22 | 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.