Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31052 | 93379;93380;93381 | chr2:178548472;178548471;178548470 | chr2:179413199;179413198;179413197 |
| N2AB | 29411 | 88456;88457;88458 | chr2:178548472;178548471;178548470 | chr2:179413199;179413198;179413197 |
| N2A | 28484 | 85675;85676;85677 | chr2:178548472;178548471;178548470 | chr2:179413199;179413198;179413197 |
| N2B | 21987 | 66184;66185;66186 | chr2:178548472;178548471;178548470 | chr2:179413199;179413198;179413197 |
| Novex-1 | 22112 | 66559;66560;66561 | chr2:178548472;178548471;178548470 | chr2:179413199;179413198;179413197 |
| Novex-2 | 22179 | 66760;66761;66762 | chr2:178548472;178548471;178548470 | chr2:179413199;179413198;179413197 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.472 | N | 0.527 | 0.204 | 0.574126200305 | 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 |
| V/L | None | None | 0.063 | N | 0.388 | 0.089 | 0.377451072189 | gnomAD-4.0.0 | 6.84178E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99442E-07 | 0 | 0 |
| V/M | rs764170998  |
-0.972 | 0.078 | N | 0.43 | 0.172 | 0.4018988957 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| V/M | rs764170998 |
-0.972 | 0.078 | N | 0.43 | 0.172 | 0.4018988957 | gnomAD-4.0.0 | 4.78925E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49721E-06 | 1.15931E-05 | 1.65645E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2423 | likely_benign | 0.1936 | benign | -2.291 | Highly Destabilizing | 0.472 | N | 0.527 | neutral | N | 0.478001376 | None | None | I |
| V/C | 0.6704 | likely_pathogenic | 0.6257 | pathogenic | -1.874 | Destabilizing | 0.996 | D | 0.589 | neutral | None | None | None | None | I |
| V/D | 0.5737 | likely_pathogenic | 0.4977 | ambiguous | -3.162 | Highly Destabilizing | 0.984 | D | 0.643 | neutral | None | None | None | None | I |
| V/E | 0.379 | ambiguous | 0.329 | benign | -3.004 | Highly Destabilizing | 0.939 | D | 0.598 | neutral | N | 0.464399663 | None | None | I |
| V/F | 0.2179 | likely_benign | 0.1864 | benign | -1.425 | Destabilizing | 0.91 | D | 0.59 | neutral | None | None | None | None | I |
| V/G | 0.4456 | ambiguous | 0.3584 | ambiguous | -2.746 | Highly Destabilizing | 0.939 | D | 0.653 | neutral | N | 0.505766869 | None | None | I |
| V/H | 0.5234 | ambiguous | 0.4564 | ambiguous | -2.411 | Highly Destabilizing | 0.996 | D | 0.671 | neutral | None | None | None | None | I |
| V/I | 0.0642 | likely_benign | 0.0662 | benign | -1.035 | Destabilizing | 0.004 | N | 0.193 | neutral | None | None | None | None | I |
| V/K | 0.3978 | ambiguous | 0.3511 | ambiguous | -2.032 | Highly Destabilizing | 0.91 | D | 0.606 | neutral | None | None | None | None | I |
| V/L | 0.1573 | likely_benign | 0.128 | benign | -1.035 | Destabilizing | 0.063 | N | 0.388 | neutral | N | 0.472938513 | None | None | I |
| V/M | 0.1193 | likely_benign | 0.1099 | benign | -1.042 | Destabilizing | 0.078 | N | 0.43 | neutral | N | 0.476559798 | None | None | I |
| V/N | 0.3655 | ambiguous | 0.3146 | benign | -2.257 | Highly Destabilizing | 0.984 | D | 0.661 | neutral | None | None | None | None | I |
| V/P | 0.9798 | likely_pathogenic | 0.9642 | pathogenic | -1.429 | Destabilizing | 0.984 | D | 0.594 | neutral | None | None | None | None | I |
| V/Q | 0.3547 | ambiguous | 0.298 | benign | -2.208 | Highly Destabilizing | 0.953 | D | 0.606 | neutral | None | None | None | None | I |
| V/R | 0.3244 | likely_benign | 0.263 | benign | -1.647 | Destabilizing | 0.953 | D | 0.663 | neutral | None | None | None | None | I |
| V/S | 0.3 | likely_benign | 0.2405 | benign | -2.771 | Highly Destabilizing | 0.953 | D | 0.594 | neutral | None | None | None | None | I |
| V/T | 0.1735 | likely_benign | 0.1432 | benign | -2.501 | Highly Destabilizing | 0.742 | D | 0.562 | neutral | None | None | None | None | I |
| V/W | 0.7983 | likely_pathogenic | 0.7604 | pathogenic | -1.934 | Destabilizing | 0.996 | D | 0.689 | prob.neutral | None | None | None | None | I |
| V/Y | 0.5633 | ambiguous | 0.4873 | ambiguous | -1.64 | Destabilizing | 0.953 | D | 0.591 | 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.