Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34004 | 102235;102236;102237 | chr2:178534605;178534604;178534603 | chr2:179399332;179399331;179399330 |
| N2AB | 32363 | 97312;97313;97314 | chr2:178534605;178534604;178534603 | chr2:179399332;179399331;179399330 |
| N2A | 31436 | 94531;94532;94533 | chr2:178534605;178534604;178534603 | chr2:179399332;179399331;179399330 |
| N2B | 24939 | 75040;75041;75042 | chr2:178534605;178534604;178534603 | chr2:179399332;179399331;179399330 |
| Novex-1 | 25064 | 75415;75416;75417 | chr2:178534605;178534604;178534603 | chr2:179399332;179399331;179399330 |
| Novex-2 | 25131 | 75616;75617;75618 | chr2:178534605;178534604;178534603 | chr2:179399332;179399331;179399330 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: CTG
- RefSeq wild type template codon: GAC
- Domain: Kinase-1
- Domain position: 192
- Q(SASA): 0.0889
- Predicted PPI site: N
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | None | None | None | D | None | 0.732 | 0.869283475951 | gnomAD-4.0.0 | 1.36845E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79902E-06 | 0 | 0 |
| L/Q | rs727504897  |
-2.878 | None | D | None | 0.652 | 0.881451469118 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| L/Q | rs727504897 |
-2.878 | None | D | None | 0.652 | 0.881451469118 | gnomAD-4.0.0 | 1.36845E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.70907E-05 | 0 | 1.65651E-05 |
| L/V | None | None | None | N | None | 0.226 | 0.473538153929 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8122 | likely_pathogenic | 0.7958 | pathogenic | -2.553 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.9445 | likely_pathogenic | 0.9382 | pathogenic | -1.855 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9972 | likely_pathogenic | 0.9968 | pathogenic | -3.312 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9833 | likely_pathogenic | 0.9819 | pathogenic | -2.98 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.6522 | likely_pathogenic | 0.5963 | pathogenic | -1.588 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/G | 0.9792 | likely_pathogenic | 0.9797 | pathogenic | -3.185 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.9751 | likely_pathogenic | 0.9736 | pathogenic | -3.048 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.259 | likely_benign | 0.2357 | benign | -0.662 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/K | 0.9781 | likely_pathogenic | 0.9766 | pathogenic | -2.119 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.3226 | likely_benign | 0.3087 | benign | -0.742 | Destabilizing | None | None | None | None | N | 0.515761863 | None | None | N |
| L/N | 0.9822 | likely_pathogenic | 0.9815 | pathogenic | -2.861 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9938 | likely_pathogenic | 0.9937 | pathogenic | -1.282 | Destabilizing | None | None | None | None | D | 0.53103278 | None | None | N |
| L/Q | 0.9568 | likely_pathogenic | 0.9563 | pathogenic | -2.457 | Highly Destabilizing | None | None | None | None | D | 0.530779291 | None | None | N |
| L/R | 0.971 | likely_pathogenic | 0.9703 | pathogenic | -2.261 | Highly Destabilizing | None | None | None | None | D | 0.530779291 | None | None | N |
| L/S | 0.9538 | likely_pathogenic | 0.9529 | pathogenic | -3.431 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.8132 | likely_pathogenic | 0.8056 | pathogenic | -2.921 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.3194 | likely_benign | 0.3027 | benign | -1.282 | Destabilizing | None | None | None | None | N | 0.455438549 | None | None | N |
| L/W | 0.954 | likely_pathogenic | 0.9445 | pathogenic | -2.064 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.9649 | likely_pathogenic | 0.9579 | pathogenic | -1.776 | Destabilizing | None | None | None | None | 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.