Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34092 | 102499;102500;102501 | chr2:178534341;178534340;178534339 | chr2:179399068;179399067;179399066 |
| N2AB | 32451 | 97576;97577;97578 | chr2:178534341;178534340;178534339 | chr2:179399068;179399067;179399066 |
| N2A | 31524 | 94795;94796;94797 | chr2:178534341;178534340;178534339 | chr2:179399068;179399067;179399066 |
| N2B | 25027 | 75304;75305;75306 | chr2:178534341;178534340;178534339 | chr2:179399068;179399067;179399066 |
| Novex-1 | 25152 | 75679;75680;75681 | chr2:178534341;178534340;178534339 | chr2:179399068;179399067;179399066 |
| Novex-2 | 25219 | 75880;75881;75882 | chr2:178534341;178534340;178534339 | chr2:179399068;179399067;179399066 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: CGT
- RefSeq wild type template codon: GCA
- Domain: Kinase-1
- Domain position: 280
- Q(SASA): 0.402
- Predicted PPI site: I
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs765435004  |
-0.097 | None | N | None | 0.355 | 0.250579442822 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.67038E-04 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/C | rs765435004 |
-0.097 | None | N | None | 0.355 | 0.250579442822 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs765435004 |
-0.097 | None | N | None | 0.355 | 0.250579442822 | gnomAD-4.0.0 | 6.82188E-06 | None | None | None | None | I | None | 0 | 1.66683E-05 | None | 0 | 1.11378E-04 | None | 1.59418E-05 | 0 | 2.54277E-06 | 1.09782E-05 | 0 |
| R/H | rs757918924 |
-0.993 | None | N | None | 0.361 | 0.248417906384 | gnomAD-2.1.1 | 5.66E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.24679E-04 | 0 |
| R/H | rs757918924 |
-0.993 | None | N | None | 0.361 | 0.248417906384 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| R/H | rs757918924 |
-0.993 | None | N | None | 0.361 | 0.248417906384 | gnomAD-4.0.0 | 9.36361E-05 | None | None | None | None | I | None | 1.33533E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18661E-04 | 7.68504E-05 | 4.80323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8463 | likely_pathogenic | 0.866 | pathogenic | -0.073 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/C | 0.623 | likely_pathogenic | 0.7033 | pathogenic | -0.133 | Destabilizing | None | None | None | None | N | 0.440183016 | None | None | I |
| R/D | 0.929 | likely_pathogenic | 0.9338 | pathogenic | 0.02 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/E | 0.7938 | likely_pathogenic | 0.808 | pathogenic | 0.112 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/F | 0.9287 | likely_pathogenic | 0.9436 | pathogenic | -0.184 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/G | 0.7206 | likely_pathogenic | 0.7739 | pathogenic | -0.317 | Destabilizing | None | None | None | None | N | 0.439489582 | None | None | I |
| R/H | 0.3638 | ambiguous | 0.4124 | ambiguous | -0.882 | Destabilizing | None | None | None | None | N | 0.439836299 | None | None | I |
| R/I | 0.7385 | likely_pathogenic | 0.7821 | pathogenic | 0.546 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/K | 0.3339 | likely_benign | 0.3312 | benign | -0.088 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/L | 0.6613 | likely_pathogenic | 0.7157 | pathogenic | 0.546 | Stabilizing | None | None | None | None | N | 0.437582641 | None | None | I |
| R/M | 0.8109 | likely_pathogenic | 0.8381 | pathogenic | 0.079 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/N | 0.8734 | likely_pathogenic | 0.8898 | pathogenic | 0.167 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/P | 0.9245 | likely_pathogenic | 0.9331 | pathogenic | 0.362 | Stabilizing | None | None | None | None | N | 0.437929357 | None | None | I |
| R/Q | 0.3194 | likely_benign | 0.3498 | ambiguous | 0.091 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/S | 0.8705 | likely_pathogenic | 0.899 | pathogenic | -0.256 | Destabilizing | None | None | None | None | N | 0.438449432 | None | None | I |
| R/T | 0.7668 | likely_pathogenic | 0.8031 | pathogenic | -0.005 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/V | 0.8332 | likely_pathogenic | 0.8655 | pathogenic | 0.362 | Stabilizing | None | None | None | None | None | None | None | None | I |
| R/W | 0.6349 | likely_pathogenic | 0.669 | pathogenic | -0.168 | Destabilizing | None | None | None | None | None | None | None | None | I |
| R/Y | 0.8213 | likely_pathogenic | 0.8505 | pathogenic | 0.231 | Stabilizing | None | None | None | None | None | None | None | None | I |
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.