Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31102 | 93529;93530;93531 | chr2:178548322;178548321;178548320 | chr2:179413049;179413048;179413047 |
| N2AB | 29461 | 88606;88607;88608 | chr2:178548322;178548321;178548320 | chr2:179413049;179413048;179413047 |
| N2A | 28534 | 85825;85826;85827 | chr2:178548322;178548321;178548320 | chr2:179413049;179413048;179413047 |
| N2B | 22037 | 66334;66335;66336 | chr2:178548322;178548321;178548320 | chr2:179413049;179413048;179413047 |
| Novex-1 | 22162 | 66709;66710;66711 | chr2:178548322;178548321;178548320 | chr2:179413049;179413048;179413047 |
| Novex-2 | 22229 | 66910;66911;66912 | chr2:178548322;178548321;178548320 | chr2:179413049;179413048;179413047 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs374084427  |
-1.096 | 0.004 | N | 0.535 | 0.197 | None | gnomAD-2.1.1 | 4.29E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.0248E-04 | None | 0 | None | 4E-05 | 7.05E-05 | 0 |
| Y/C | rs374084427 |
-1.096 | 0.004 | N | 0.535 | 0.197 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92678E-04 | None | 9.41E-05 | 0 | 4.42E-05 | 0 | 0 |
| Y/C | rs374084427 |
-1.096 | 0.004 | N | 0.535 | 0.197 | None | gnomAD-4.0.0 | 3.65641E-05 | None | None | None | None | I | None | 4.00716E-05 | 0 | None | 0 | 4.45553E-05 | None | 1.5624E-05 | 0 | 4.23821E-05 | 0 | 4.80354E-05 |
| Y/F | None | None | 0.712 | N | 0.495 | 0.097 | 0.210429274316 | gnomAD-4.0.0 | 6.84183E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| Y/H | None | None | 0.009 | N | 0.43 | 0.087 | 0.199424873507 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.219 | likely_benign | 0.2539 | benign | -2.721 | Highly Destabilizing | 0.447 | N | 0.548 | neutral | None | None | None | None | I |
| Y/C | 0.0619 | likely_benign | 0.0783 | benign | -1.221 | Destabilizing | 0.004 | N | 0.535 | neutral | N | 0.408289602 | None | None | I |
| Y/D | 0.3315 | likely_benign | 0.398 | ambiguous | -2.205 | Highly Destabilizing | 0.896 | D | 0.611 | neutral | N | 0.464316243 | None | None | I |
| Y/E | 0.5011 | ambiguous | 0.5633 | ambiguous | -2.091 | Highly Destabilizing | 0.85 | D | 0.582 | neutral | None | None | None | None | I |
| Y/F | 0.0726 | likely_benign | 0.0764 | benign | -1.072 | Destabilizing | 0.712 | D | 0.495 | neutral | N | 0.463969526 | None | None | I |
| Y/G | 0.2564 | likely_benign | 0.2975 | benign | -3.055 | Highly Destabilizing | 0.617 | D | 0.565 | neutral | None | None | None | None | I |
| Y/H | 0.1226 | likely_benign | 0.1445 | benign | -1.531 | Destabilizing | 0.009 | N | 0.43 | neutral | N | 0.464316243 | None | None | I |
| Y/I | 0.3195 | likely_benign | 0.3723 | ambiguous | -1.659 | Destabilizing | 0.85 | D | 0.599 | neutral | None | None | None | None | I |
| Y/K | 0.4816 | ambiguous | 0.5237 | ambiguous | -1.853 | Destabilizing | 0.447 | N | 0.547 | neutral | None | None | None | None | I |
| Y/L | 0.3437 | ambiguous | 0.3755 | ambiguous | -1.659 | Destabilizing | 0.447 | N | 0.509 | neutral | None | None | None | None | I |
| Y/M | 0.4257 | ambiguous | 0.4859 | ambiguous | -1.203 | Destabilizing | 0.992 | D | 0.597 | neutral | None | None | None | None | I |
| Y/N | 0.1722 | likely_benign | 0.2218 | benign | -2.278 | Highly Destabilizing | 0.81 | D | 0.609 | neutral | N | 0.464142885 | None | None | I |
| Y/P | 0.8708 | likely_pathogenic | 0.8826 | pathogenic | -2.016 | Highly Destabilizing | 0.972 | D | 0.617 | neutral | None | None | None | None | I |
| Y/Q | 0.2861 | likely_benign | 0.3562 | ambiguous | -2.183 | Highly Destabilizing | 0.85 | D | 0.595 | neutral | None | None | None | None | I |
| Y/R | 0.2752 | likely_benign | 0.2824 | benign | -1.383 | Destabilizing | 0.012 | N | 0.514 | neutral | None | None | None | None | I |
| Y/S | 0.1268 | likely_benign | 0.152 | benign | -2.641 | Highly Destabilizing | 0.549 | D | 0.552 | neutral | N | 0.422725045 | None | None | I |
| Y/T | 0.2442 | likely_benign | 0.2998 | benign | -2.44 | Highly Destabilizing | 0.617 | D | 0.583 | neutral | None | None | None | None | I |
| Y/V | 0.2186 | likely_benign | 0.2465 | benign | -2.016 | Highly Destabilizing | 0.447 | N | 0.504 | neutral | None | None | None | None | I |
| Y/W | 0.3043 | likely_benign | 0.2902 | benign | -0.611 | Destabilizing | 0.992 | D | 0.602 | neutral | 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.