Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5931 | 18016;18017;18018 | chr2:178730742;178730741;178730740 | chr2:179595469;179595468;179595467 |
| N2AB | 5614 | 17065;17066;17067 | chr2:178730742;178730741;178730740 | chr2:179595469;179595468;179595467 |
| N2A | 4687 | 14284;14285;14286 | chr2:178730742;178730741;178730740 | chr2:179595469;179595468;179595467 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | 0.58 | N | 0.409 | 0.108 | 0.368183359018 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| I/V | rs556014670  |
-1.125 | 0.02 | N | 0.323 | 0.113 | 0.424670345773 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 6.51E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs556014670 |
-1.125 | 0.02 | N | 0.323 | 0.113 | 0.424670345773 | 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 |
| I/V | rs556014670 |
-1.125 | 0.02 | N | 0.323 | 0.113 | 0.424670345773 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| I/V | rs556014670 |
-1.125 | 0.02 | N | 0.323 | 0.113 | 0.424670345773 | gnomAD-4.0.0 | 6.56513E-06 | None | None | None | None | N | None | 2.40442E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4545 | ambiguous | 0.4826 | ambiguous | -0.634 | Destabilizing | 0.91 | D | 0.581 | neutral | None | None | None | None | N |
| I/C | 0.8097 | likely_pathogenic | 0.8063 | pathogenic | -0.71 | Destabilizing | 0.999 | D | 0.662 | neutral | None | None | None | None | N |
| I/D | 0.8192 | likely_pathogenic | 0.8403 | pathogenic | 0.355 | Stabilizing | 0.998 | D | 0.705 | prob.neutral | None | None | None | None | N |
| I/E | 0.6464 | likely_pathogenic | 0.6757 | pathogenic | 0.294 | Stabilizing | 0.993 | D | 0.693 | prob.neutral | None | None | None | None | N |
| I/F | 0.1985 | likely_benign | 0.2093 | benign | -0.468 | Destabilizing | 0.991 | D | 0.735 | prob.delet. | N | 0.513972351 | None | None | N |
| I/G | 0.7377 | likely_pathogenic | 0.7682 | pathogenic | -0.827 | Destabilizing | 0.993 | D | 0.694 | prob.neutral | None | None | None | None | N |
| I/H | 0.6135 | likely_pathogenic | 0.6406 | pathogenic | -0.061 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| I/K | 0.4312 | ambiguous | 0.4844 | ambiguous | -0.25 | Destabilizing | 0.993 | D | 0.69 | prob.neutral | None | None | None | None | N |
| I/L | 0.1225 | likely_benign | 0.1275 | benign | -0.24 | Destabilizing | 0.58 | D | 0.409 | neutral | N | 0.454750689 | None | None | N |
| I/M | 0.1023 | likely_benign | 0.1063 | benign | -0.35 | Destabilizing | 0.991 | D | 0.726 | prob.delet. | N | 0.501331128 | None | None | N |
| I/N | 0.4245 | ambiguous | 0.4658 | ambiguous | -0.104 | Destabilizing | 0.997 | D | 0.702 | prob.neutral | N | 0.467333197 | None | None | N |
| I/P | 0.7772 | likely_pathogenic | 0.8089 | pathogenic | -0.338 | Destabilizing | 0.998 | D | 0.708 | prob.delet. | None | None | None | None | N |
| I/Q | 0.4661 | ambiguous | 0.5015 | ambiguous | -0.262 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | N |
| I/R | 0.3507 | ambiguous | 0.3983 | ambiguous | 0.21 | Stabilizing | 0.998 | D | 0.701 | prob.neutral | None | None | None | None | N |
| I/S | 0.4208 | ambiguous | 0.4505 | ambiguous | -0.689 | Destabilizing | 0.991 | D | 0.651 | neutral | N | 0.484377376 | None | None | N |
| I/T | 0.3049 | likely_benign | 0.3376 | benign | -0.634 | Destabilizing | 0.939 | D | 0.62 | neutral | N | 0.486284318 | None | None | N |
| I/V | 0.0712 | likely_benign | 0.0735 | benign | -0.338 | Destabilizing | 0.02 | N | 0.323 | neutral | N | 0.410383837 | None | None | N |
| I/W | 0.7946 | likely_pathogenic | 0.7857 | pathogenic | -0.473 | Destabilizing | 0.999 | D | 0.673 | neutral | None | None | None | None | N |
| I/Y | 0.5734 | likely_pathogenic | 0.5936 | pathogenic | -0.224 | Destabilizing | 0.998 | D | 0.69 | prob.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.