Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2309 | 7150;7151;7152 | chr2:178774339;178774338;178774337 | chr2:179639066;179639065;179639064 |
| N2AB | 2309 | 7150;7151;7152 | chr2:178774339;178774338;178774337 | chr2:179639066;179639065;179639064 |
| N2A | 2309 | 7150;7151;7152 | chr2:178774339;178774338;178774337 | chr2:179639066;179639065;179639064 |
| N2B | 2263 | 7012;7013;7014 | chr2:178774339;178774338;178774337 | chr2:179639066;179639065;179639064 |
| Novex-1 | 2263 | 7012;7013;7014 | chr2:178774339;178774338;178774337 | chr2:179639066;179639065;179639064 |
| Novex-2 | 2263 | 7012;7013;7014 | chr2:178774339;178774338;178774337 | chr2:179639066;179639065;179639064 |
| Novex-3 | 2309 | 7150;7151;7152 | chr2:178774339;178774338;178774337 | chr2:179639066;179639065;179639064 |
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/K | rs147580120  |
0.587 | 0.801 | N | 0.289 | 0.109 | 0.0986583533028 | gnomAD-2.1.1 | 2.39E-05 | None | None | None | None | N | None | 3.6914E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs147580120 |
0.587 | 0.801 | N | 0.289 | 0.109 | 0.0986583533028 | gnomAD-3.1.2 | 8.54E-05 | None | None | None | None | N | None | 3.13767E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs147580120 |
0.587 | 0.801 | N | 0.289 | 0.109 | 0.0986583533028 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| N/K | rs147580120 |
0.587 | 0.801 | N | 0.289 | 0.109 | 0.0986583533028 | gnomAD-4.0.0 | 1.17714E-05 | None | None | None | None | N | None | 2.3991E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.59974E-05 |
| N/S | rs1405410487 |
0.351 | 0.007 | N | 0.125 | 0.109 | 0.0806252709748 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.44E-05 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs1405410487 |
0.351 | 0.007 | N | 0.125 | 0.109 | 0.0806252709748 | gnomAD-4.0.0 | 1.59055E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.2144 | likely_benign | 0.2203 | benign | -0.41 | Destabilizing | 0.525 | D | 0.324 | neutral | None | None | None | None | N |
| N/C | 0.2664 | likely_benign | 0.2705 | benign | 0.222 | Stabilizing | 0.998 | D | 0.379 | neutral | None | None | None | None | N |
| N/D | 0.1104 | likely_benign | 0.1125 | benign | 0.429 | Stabilizing | 0.801 | D | 0.329 | neutral | N | 0.40218161 | None | None | N |
| N/E | 0.4674 | ambiguous | 0.4727 | ambiguous | 0.4 | Stabilizing | 0.842 | D | 0.283 | neutral | None | None | None | None | N |
| N/F | 0.5802 | likely_pathogenic | 0.5789 | pathogenic | -0.867 | Destabilizing | 0.991 | D | 0.383 | neutral | None | None | None | None | N |
| N/G | 0.1997 | likely_benign | 0.2096 | benign | -0.565 | Destabilizing | 0.007 | N | 0.154 | neutral | None | None | None | None | N |
| N/H | 0.1483 | likely_benign | 0.1486 | benign | -0.564 | Destabilizing | 0.989 | D | 0.313 | neutral | N | 0.446134253 | None | None | N |
| N/I | 0.3489 | ambiguous | 0.3472 | ambiguous | -0.091 | Destabilizing | 0.966 | D | 0.401 | neutral | N | 0.447175167 | None | None | N |
| N/K | 0.4188 | ambiguous | 0.4203 | ambiguous | 0.231 | Stabilizing | 0.801 | D | 0.289 | neutral | N | 0.451421669 | None | None | N |
| N/L | 0.3017 | likely_benign | 0.2966 | benign | -0.091 | Destabilizing | 0.842 | D | 0.393 | neutral | None | None | None | None | N |
| N/M | 0.4058 | ambiguous | 0.4034 | ambiguous | 0.183 | Stabilizing | 0.998 | D | 0.347 | neutral | None | None | None | None | N |
| N/P | 0.774 | likely_pathogenic | 0.7758 | pathogenic | -0.172 | Destabilizing | 0.974 | D | 0.363 | neutral | None | None | None | None | N |
| N/Q | 0.4351 | ambiguous | 0.4443 | ambiguous | -0.273 | Destabilizing | 0.974 | D | 0.315 | neutral | None | None | None | None | N |
| N/R | 0.4447 | ambiguous | 0.4429 | ambiguous | 0.243 | Stabilizing | 0.949 | D | 0.305 | neutral | None | None | None | None | N |
| N/S | 0.0613 | likely_benign | 0.0624 | benign | -0.14 | Destabilizing | 0.007 | N | 0.125 | neutral | N | 0.353604015 | None | None | N |
| N/T | 0.103 | likely_benign | 0.1036 | benign | -0.012 | Destabilizing | 0.669 | D | 0.292 | neutral | N | 0.440193694 | None | None | N |
| N/V | 0.3224 | likely_benign | 0.3216 | benign | -0.172 | Destabilizing | 0.949 | D | 0.395 | neutral | None | None | None | None | N |
| N/W | 0.8377 | likely_pathogenic | 0.8383 | pathogenic | -0.857 | Destabilizing | 0.998 | D | 0.501 | neutral | None | None | None | None | N |
| N/Y | 0.2829 | likely_benign | 0.2747 | benign | -0.571 | Destabilizing | 0.989 | D | 0.359 | neutral | N | 0.447175167 | 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.