Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33957 | 102094;102095;102096 | chr2:178534746;178534745;178534744 | chr2:179399473;179399472;179399471 |
| N2AB | 32316 | 97171;97172;97173 | chr2:178534746;178534745;178534744 | chr2:179399473;179399472;179399471 |
| N2A | 31389 | 94390;94391;94392 | chr2:178534746;178534745;178534744 | chr2:179399473;179399472;179399471 |
| N2B | 24892 | 74899;74900;74901 | chr2:178534746;178534745;178534744 | chr2:179399473;179399472;179399471 |
| Novex-1 | 25017 | 75274;75275;75276 | chr2:178534746;178534745;178534744 | chr2:179399473;179399472;179399471 |
| Novex-2 | 25084 | 75475;75476;75477 | chr2:178534746;178534745;178534744 | chr2:179399473;179399472;179399471 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATC
- RefSeq wild type template codon: TAG
- Domain: Kinase-1
- Domain position: 145
- Q(SASA): 0.1212
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/L | None | None | None | N | None | 0.135 | 0.36256342048 | gnomAD-4.0.0 | 1.59129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85817E-06 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9577 | likely_pathogenic | 0.9633 | pathogenic | -3.076 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9782 | likely_pathogenic | 0.9789 | pathogenic | -2.21 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9944 | likely_pathogenic | 0.9929 | pathogenic | -3.913 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9861 | likely_pathogenic | 0.9837 | pathogenic | -3.636 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.7099 | likely_pathogenic | 0.7254 | pathogenic | -2.008 | Highly Destabilizing | None | None | None | None | N | 0.489976338 | None | None | N |
| I/G | 0.9912 | likely_pathogenic | 0.9919 | pathogenic | -3.608 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9859 | likely_pathogenic | 0.984 | pathogenic | -3.145 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9725 | likely_pathogenic | 0.9636 | pathogenic | -2.669 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.4285 | ambiguous | 0.4395 | ambiguous | -1.471 | Destabilizing | None | None | None | None | N | 0.387457678 | None | None | N |
| I/M | 0.3319 | likely_benign | 0.3318 | benign | -1.378 | Destabilizing | None | None | None | None | N | 0.464630381 | None | None | N |
| I/N | 0.9286 | likely_pathogenic | 0.9214 | pathogenic | -3.27 | Highly Destabilizing | None | None | None | None | N | 0.508841061 | None | None | N |
| I/P | 0.9945 | likely_pathogenic | 0.9952 | pathogenic | -1.999 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9787 | likely_pathogenic | 0.9759 | pathogenic | -3.047 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.9629 | likely_pathogenic | 0.9558 | pathogenic | -2.4 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.96 | likely_pathogenic | 0.96 | pathogenic | -3.795 | Highly Destabilizing | None | None | None | None | N | 0.497320172 | None | None | N |
| I/T | 0.9462 | likely_pathogenic | 0.9483 | pathogenic | -3.386 | Highly Destabilizing | None | None | None | None | N | 0.497066682 | None | None | N |
| I/V | 0.2984 | likely_benign | 0.3346 | benign | -1.999 | Destabilizing | None | None | None | None | N | 0.480917704 | None | None | N |
| I/W | 0.9901 | likely_pathogenic | 0.9892 | pathogenic | -2.47 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.9414 | likely_pathogenic | 0.9355 | pathogenic | -2.259 | Highly 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.