Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8412 | 25459;25460;25461 | chr2:178717640;178717639;178717638 | chr2:179582367;179582366;179582365 |
| N2AB | 8095 | 24508;24509;24510 | chr2:178717640;178717639;178717638 | chr2:179582367;179582366;179582365 |
| N2A | 7168 | 21727;21728;21729 | chr2:178717640;178717639;178717638 | chr2:179582367;179582366;179582365 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/R | rs775392484  |
-0.465 | None | N | 0.089 | 0.09 | None | gnomAD-2.1.1 | 2.15E-05 | None | None | None | None | N | None | 2.4853E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/R | rs775392484 |
-0.465 | None | N | 0.089 | 0.09 | None | gnomAD-3.1.2 | 5.26E-05 | None | None | None | None | N | None | 1.93032E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs775392484 |
-0.465 | None | N | 0.089 | 0.09 | None | gnomAD-4.0.0 | 7.43843E-06 | None | None | None | None | N | None | 1.46855E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47764E-07 | 0 | 0 |
| H/Y | rs1256940513 |
0.911 | 0.006 | N | 0.287 | 0.066 | 0.115124310173 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 0 | 0 |
| H/Y | rs1256940513 |
0.911 | 0.006 | N | 0.287 | 0.066 | 0.115124310173 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs1256940513 |
0.911 | 0.006 | N | 0.287 | 0.066 | 0.115124310173 | gnomAD-4.0.0 | 2.56397E-06 | None | None | None | None | N | None | 1.69222E-05 | 0 | None | 0 | 0 | None | 1.5705E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.2381 | likely_benign | 0.3089 | benign | 0.249 | Stabilizing | 0.003 | N | 0.205 | neutral | None | None | None | None | N |
| H/C | 0.2231 | likely_benign | 0.2801 | benign | 0.327 | Stabilizing | 0.313 | N | 0.225 | neutral | None | None | None | None | N |
| H/D | 0.0991 | likely_benign | 0.1261 | benign | -0.373 | Destabilizing | None | N | 0.107 | neutral | N | 0.331828108 | None | None | N |
| H/E | 0.1993 | likely_benign | 0.2453 | benign | -0.376 | Destabilizing | 0.001 | N | 0.161 | neutral | None | None | None | None | N |
| H/F | 0.4023 | ambiguous | 0.4593 | ambiguous | 0.709 | Stabilizing | None | N | 0.144 | neutral | None | None | None | None | N |
| H/G | 0.1633 | likely_benign | 0.2059 | benign | 0.054 | Stabilizing | None | N | 0.107 | neutral | None | None | None | None | N |
| H/I | 0.5298 | ambiguous | 0.6318 | pathogenic | 0.724 | Stabilizing | 0.027 | N | 0.395 | neutral | None | None | None | None | N |
| H/K | 0.1881 | likely_benign | 0.233 | benign | 0.102 | Stabilizing | None | N | 0.111 | neutral | None | None | None | None | N |
| H/L | 0.1636 | likely_benign | 0.2039 | benign | 0.724 | Stabilizing | 0.002 | N | 0.296 | neutral | N | 0.455311892 | None | None | N |
| H/M | 0.519 | ambiguous | 0.5967 | pathogenic | 0.42 | Stabilizing | 0.166 | N | 0.263 | neutral | None | None | None | None | N |
| H/N | 0.0594 | likely_benign | 0.067 | benign | -0.059 | Destabilizing | None | N | 0.076 | neutral | N | 0.375810958 | None | None | N |
| H/P | 0.2581 | likely_benign | 0.3111 | benign | 0.587 | Stabilizing | 0.013 | N | 0.319 | neutral | N | 0.429202726 | None | None | N |
| H/Q | 0.1199 | likely_benign | 0.1497 | benign | -0.005 | Destabilizing | None | N | 0.121 | neutral | N | 0.422911472 | None | None | N |
| H/R | 0.0815 | likely_benign | 0.0891 | benign | -0.292 | Destabilizing | None | N | 0.089 | neutral | N | 0.442227951 | None | None | N |
| H/S | 0.1581 | likely_benign | 0.1991 | benign | 0.064 | Stabilizing | 0.006 | N | 0.217 | neutral | None | None | None | None | N |
| H/T | 0.3096 | likely_benign | 0.3875 | ambiguous | 0.149 | Stabilizing | 0.004 | N | 0.259 | neutral | None | None | None | None | N |
| H/V | 0.4042 | ambiguous | 0.5105 | ambiguous | 0.587 | Stabilizing | 0.012 | N | 0.262 | neutral | None | None | None | None | N |
| H/W | 0.4165 | ambiguous | 0.4917 | ambiguous | 0.589 | Stabilizing | 0.693 | D | 0.222 | neutral | None | None | None | None | N |
| H/Y | 0.1135 | likely_benign | 0.1293 | benign | 0.833 | Stabilizing | 0.006 | N | 0.287 | neutral | N | 0.470569346 | 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.