Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8503 | 25732;25733;25734 | chr2:178717227;178717226;178717225 | chr2:179581954;179581953;179581952 |
| N2AB | 8186 | 24781;24782;24783 | chr2:178717227;178717226;178717225 | chr2:179581954;179581953;179581952 |
| N2A | 7259 | 22000;22001;22002 | chr2:178717227;178717226;178717225 | chr2:179581954;179581953;179581952 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs1336555903  |
0.368 | 0.947 | N | 0.419 | 0.252 | 0.317958651998 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| K/E | rs1336555903 |
0.368 | 0.947 | N | 0.419 | 0.252 | 0.317958651998 | gnomAD-4.0.0 | 1.59166E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8591E-06 | 0 | 0 |
| K/R | rs765512040 |
-0.255 | 0.064 | N | 0.313 | 0.135 | 0.213573922156 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 6.6335E-04 |
| K/R | rs765512040 |
-0.255 | 0.064 | N | 0.313 | 0.135 | 0.213573922156 | gnomAD-4.0.0 | 5.47424E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 8.67152E-04 | 8.99552E-07 | 0 | 3.31411E-05 |
| K/T | rs765512040 |
-0.627 | 0.996 | N | 0.511 | 0.464 | 0.45882554386 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| K/T | rs765512040 |
-0.627 | 0.996 | N | 0.511 | 0.464 | 0.45882554386 | gnomAD-4.0.0 | 6.8428E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 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 | 0.7329 | likely_pathogenic | 0.783 | pathogenic | -0.277 | Destabilizing | 0.994 | D | 0.449 | neutral | None | None | None | None | N |
| K/C | 0.891 | likely_pathogenic | 0.9212 | pathogenic | -0.364 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| K/D | 0.8907 | likely_pathogenic | 0.9182 | pathogenic | 0.18 | Stabilizing | 0.998 | D | 0.521 | neutral | None | None | None | None | N |
| K/E | 0.4657 | ambiguous | 0.5324 | ambiguous | 0.232 | Stabilizing | 0.947 | D | 0.419 | neutral | N | 0.465469115 | None | None | N |
| K/F | 0.9324 | likely_pathogenic | 0.9567 | pathogenic | -0.264 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| K/G | 0.8472 | likely_pathogenic | 0.8859 | pathogenic | -0.566 | Destabilizing | 0.997 | D | 0.491 | neutral | None | None | None | None | N |
| K/H | 0.4399 | ambiguous | 0.4928 | ambiguous | -0.945 | Destabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | N |
| K/I | 0.6383 | likely_pathogenic | 0.7077 | pathogenic | 0.43 | Stabilizing | 0.99 | D | 0.694 | prob.neutral | None | None | None | None | N |
| K/L | 0.6454 | likely_pathogenic | 0.7115 | pathogenic | 0.43 | Stabilizing | 0.822 | D | 0.491 | neutral | None | None | None | None | N |
| K/M | 0.5235 | ambiguous | 0.5902 | pathogenic | 0.343 | Stabilizing | 0.999 | D | 0.601 | neutral | N | 0.497319486 | None | None | N |
| K/N | 0.7695 | likely_pathogenic | 0.8229 | pathogenic | -0.006 | Destabilizing | 0.999 | D | 0.485 | neutral | N | 0.504526149 | None | None | N |
| K/P | 0.9822 | likely_pathogenic | 0.9888 | pathogenic | 0.225 | Stabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| K/Q | 0.2111 | likely_benign | 0.2356 | benign | -0.18 | Destabilizing | 0.563 | D | 0.239 | neutral | N | 0.458100426 | None | None | N |
| K/R | 0.0895 | likely_benign | 0.0908 | benign | -0.272 | Destabilizing | 0.064 | N | 0.313 | neutral | N | 0.472837805 | None | None | N |
| K/S | 0.7388 | likely_pathogenic | 0.7901 | pathogenic | -0.652 | Destabilizing | 0.994 | D | 0.443 | neutral | None | None | None | None | N |
| K/T | 0.4082 | ambiguous | 0.4584 | ambiguous | -0.416 | Destabilizing | 0.996 | D | 0.511 | neutral | N | 0.488327332 | None | None | N |
| K/V | 0.593 | likely_pathogenic | 0.6547 | pathogenic | 0.225 | Stabilizing | 0.977 | D | 0.587 | neutral | None | None | None | None | N |
| K/W | 0.9028 | likely_pathogenic | 0.9328 | pathogenic | -0.158 | Destabilizing | 1.0 | D | 0.674 | neutral | None | None | None | None | N |
| K/Y | 0.8503 | likely_pathogenic | 0.8938 | pathogenic | 0.172 | Stabilizing | 0.994 | D | 0.657 | neutral | 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.