Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34009 | 102250;102251;102252 | chr2:178534590;178534589;178534588 | chr2:179399317;179399316;179399315 |
| N2AB | 32368 | 97327;97328;97329 | chr2:178534590;178534589;178534588 | chr2:179399317;179399316;179399315 |
| N2A | 31441 | 94546;94547;94548 | chr2:178534590;178534589;178534588 | chr2:179399317;179399316;179399315 |
| N2B | 24944 | 75055;75056;75057 | chr2:178534590;178534589;178534588 | chr2:179399317;179399316;179399315 |
| Novex-1 | 25069 | 75430;75431;75432 | chr2:178534590;178534589;178534588 | chr2:179399317;179399316;179399315 |
| Novex-2 | 25136 | 75631;75632;75633 | chr2:178534590;178534589;178534588 | chr2:179399317;179399316;179399315 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: TTG
- RefSeq wild type template codon: AAC
- Domain: Kinase-1
- Domain position: 197
- Q(SASA): 0.1202
- 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/F | rs760604476  |
-1.943 | None | N | None | 0.576 | 0.75266052353 | 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/F | rs760604476 |
-1.943 | None | N | None | 0.576 | 0.75266052353 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/F | rs760604476 |
-1.943 | None | N | None | 0.576 | 0.75266052353 | gnomAD-4.0.0 | 2.72657E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.64464E-05 | 0 | 1.60108E-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 | 0.8962 | likely_pathogenic | 0.8787 | pathogenic | -2.751 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.9358 | likely_pathogenic | 0.9191 | pathogenic | -1.841 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9974 | likely_pathogenic | 0.997 | pathogenic | -3.524 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9844 | likely_pathogenic | 0.982 | pathogenic | -3.213 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.7517 | likely_pathogenic | 0.7189 | pathogenic | -1.776 | Destabilizing | None | None | None | None | N | 0.511322364 | None | None | N |
| L/G | 0.9803 | likely_pathogenic | 0.9777 | pathogenic | -3.319 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.9737 | likely_pathogenic | 0.9686 | pathogenic | -3.006 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.3921 | ambiguous | 0.363 | ambiguous | -1.028 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/K | 0.9794 | likely_pathogenic | 0.9754 | pathogenic | -2.256 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.4845 | ambiguous | 0.4679 | ambiguous | -1.047 | Destabilizing | None | None | None | None | N | 0.507309893 | None | None | N |
| L/N | 0.9836 | likely_pathogenic | 0.9814 | pathogenic | -2.993 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9934 | likely_pathogenic | 0.9928 | pathogenic | -1.596 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Q | 0.9576 | likely_pathogenic | 0.9506 | pathogenic | -2.639 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.9706 | likely_pathogenic | 0.9654 | pathogenic | -2.337 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/S | 0.9679 | likely_pathogenic | 0.9628 | pathogenic | -3.482 | Highly Destabilizing | None | None | None | None | D | 0.545671223 | None | None | N |
| L/T | 0.899 | likely_pathogenic | 0.8848 | pathogenic | -3.011 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.4871 | ambiguous | 0.4489 | ambiguous | -1.596 | Destabilizing | None | None | None | None | N | 0.48789851 | None | None | N |
| L/W | 0.962 | likely_pathogenic | 0.953 | pathogenic | -2.145 | Highly Destabilizing | None | None | None | None | D | 0.558206071 | None | None | N |
| L/Y | 0.9676 | likely_pathogenic | 0.961 | pathogenic | -1.947 | 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.