Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33911 | 101956;101957;101958 | chr2:178534884;178534883;178534882 | chr2:179399611;179399610;179399609 |
| N2AB | 32270 | 97033;97034;97035 | chr2:178534884;178534883;178534882 | chr2:179399611;179399610;179399609 |
| N2A | 31343 | 94252;94253;94254 | chr2:178534884;178534883;178534882 | chr2:179399611;179399610;179399609 |
| N2B | 24846 | 74761;74762;74763 | chr2:178534884;178534883;178534882 | chr2:179399611;179399610;179399609 |
| Novex-1 | 24971 | 75136;75137;75138 | chr2:178534884;178534883;178534882 | chr2:179399611;179399610;179399609 |
| Novex-2 | 25038 | 75337;75338;75339 | chr2:178534884;178534883;178534882 | chr2:179399611;179399610;179399609 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: CTT
- RefSeq wild type template codon: GAA
- Domain: Kinase-1
- Domain position: 99
- Q(SASA): 0.1243
- 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 | None | None | None | N | None | 0.477 | 0.621022105485 | 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 | 0.878 | likely_pathogenic | 0.8688 | pathogenic | -2.763 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.9054 | likely_pathogenic | 0.9011 | pathogenic | -1.838 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9893 | likely_pathogenic | 0.9846 | pathogenic | -3.048 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9559 | likely_pathogenic | 0.9361 | pathogenic | -2.819 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.688 | likely_pathogenic | 0.6261 | pathogenic | -1.668 | Destabilizing | None | None | None | None | N | 0.429916534 | None | None | N |
| L/G | 0.9585 | likely_pathogenic | 0.9482 | pathogenic | -3.314 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.94 | likely_pathogenic | 0.9152 | pathogenic | -2.664 | Highly Destabilizing | None | None | None | None | D | 0.532622401 | None | None | N |
| L/I | 0.3233 | likely_benign | 0.3172 | benign | -1.16 | Destabilizing | None | None | None | None | N | 0.486673894 | None | None | N |
| L/K | 0.9083 | likely_pathogenic | 0.8653 | pathogenic | -2.237 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.3095 | likely_benign | 0.2925 | benign | -0.941 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.9487 | likely_pathogenic | 0.9334 | pathogenic | -2.556 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9589 | likely_pathogenic | 0.9359 | pathogenic | -1.677 | Destabilizing | None | None | None | None | D | 0.536124066 | None | None | N |
| L/Q | 0.8796 | likely_pathogenic | 0.8383 | pathogenic | -2.433 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.8885 | likely_pathogenic | 0.8354 | pathogenic | -1.873 | Destabilizing | None | None | None | None | N | 0.492589907 | None | None | N |
| L/S | 0.9618 | likely_pathogenic | 0.9535 | pathogenic | -3.251 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.8679 | likely_pathogenic | 0.8604 | pathogenic | -2.878 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.3955 | ambiguous | 0.388 | ambiguous | -1.677 | Destabilizing | None | None | None | None | N | 0.484057663 | None | None | N |
| L/W | 0.8713 | likely_pathogenic | 0.7986 | pathogenic | -2.058 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.9039 | likely_pathogenic | 0.8551 | pathogenic | -1.791 | 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.