Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33910 | 101953;101954;101955 | chr2:178534887;178534886;178534885 | chr2:179399614;179399613;179399612 |
| N2AB | 32269 | 97030;97031;97032 | chr2:178534887;178534886;178534885 | chr2:179399614;179399613;179399612 |
| N2A | 31342 | 94249;94250;94251 | chr2:178534887;178534886;178534885 | chr2:179399614;179399613;179399612 |
| N2B | 24845 | 74758;74759;74760 | chr2:178534887;178534886;178534885 | chr2:179399614;179399613;179399612 |
| Novex-1 | 24970 | 75133;75134;75135 | chr2:178534887;178534886;178534885 | chr2:179399614;179399613;179399612 |
| Novex-2 | 25037 | 75334;75335;75336 | chr2:178534887;178534886;178534885 | chr2:179399614;179399613;179399612 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 98
- Q(SASA): 0.5829
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs943777958  |
0.538 | None | N | None | 0.331 | 0.20549828249 | gnomAD-2.1.1 | 2.53E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 4.69E-05 | 0 |
| E/K | rs943777958 |
0.538 | None | N | None | 0.331 | 0.20549828249 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| E/K | rs943777958 |
0.538 | None | N | None | 0.331 | 0.20549828249 | gnomAD-4.0.0 | 2.29979E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.05134E-05 | 0 | 1.60174E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.383 | ambiguous | 0.3111 | benign | -0.382 | Destabilizing | None | None | None | None | N | 0.436217204 | None | None | N |
| E/C | 0.915 | likely_pathogenic | 0.8842 | pathogenic | -0.252 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.3388 | likely_benign | 0.259 | benign | -0.439 | Destabilizing | None | None | None | None | N | 0.450455937 | None | None | N |
| E/F | 0.9028 | likely_pathogenic | 0.853 | pathogenic | 0.021 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.4958 | ambiguous | 0.4064 | ambiguous | -0.617 | Destabilizing | None | None | None | None | N | 0.431811462 | None | None | N |
| E/H | 0.7019 | likely_pathogenic | 0.6298 | pathogenic | 0.355 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.6841 | likely_pathogenic | 0.5698 | pathogenic | 0.218 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.503 | ambiguous | 0.3773 | ambiguous | 0.31 | Stabilizing | None | None | None | None | N | 0.412974985 | None | None | N |
| E/L | 0.6994 | likely_pathogenic | 0.6066 | pathogenic | 0.218 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.7806 | likely_pathogenic | 0.6926 | pathogenic | 0.178 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.6092 | likely_pathogenic | 0.5019 | ambiguous | -0.271 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.782 | likely_pathogenic | 0.7359 | pathogenic | 0.039 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.2776 | likely_benign | 0.2266 | benign | -0.178 | Destabilizing | None | None | None | None | N | 0.443913967 | None | None | N |
| E/R | 0.5278 | ambiguous | 0.4581 | ambiguous | 0.631 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.4173 | ambiguous | 0.3408 | ambiguous | -0.4 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.4715 | ambiguous | 0.382 | ambiguous | -0.19 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.4635 | ambiguous | 0.3675 | ambiguous | 0.039 | Stabilizing | None | None | None | None | N | 0.44196974 | None | None | N |
| E/W | 0.9718 | likely_pathogenic | 0.9533 | pathogenic | 0.256 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.837 | likely_pathogenic | 0.7649 | pathogenic | 0.292 | Stabilizing | 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.