Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34099 | 102520;102521;102522 | chr2:178534320;178534319;178534318 | chr2:179399047;179399046;179399045 |
| N2AB | 32458 | 97597;97598;97599 | chr2:178534320;178534319;178534318 | chr2:179399047;179399046;179399045 |
| N2A | 31531 | 94816;94817;94818 | chr2:178534320;178534319;178534318 | chr2:179399047;179399046;179399045 |
| N2B | 25034 | 75325;75326;75327 | chr2:178534320;178534319;178534318 | chr2:179399047;179399046;179399045 |
| Novex-1 | 25159 | 75700;75701;75702 | chr2:178534320;178534319;178534318 | chr2:179399047;179399046;179399045 |
| Novex-2 | 25226 | 75901;75902;75903 | chr2:178534320;178534319;178534318 | chr2:179399047;179399046;179399045 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: K
- RefSeq wild type transcript codon: AAG
- RefSeq wild type template codon: TTC
- Domain: Kinase-1
- Domain position: 287
- Q(SASA): 0.3855
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs772381654  |
0.193 | None | N | None | 0.214 | 0.167679373172 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| K/N | rs772381654 |
0.193 | None | N | None | 0.214 | 0.167679373172 | gnomAD-4.0.0 | 1.592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85791E-06 | 0 | 0 |
| K/R | None | None | None | N | None | 0.105 | 0.192905019026 | gnomAD-4.0.0 | 1.3687E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31863E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.8405 | likely_pathogenic | 0.8363 | pathogenic | 0.059 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.916 | likely_pathogenic | 0.941 | pathogenic | -0.351 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.9356 | likely_pathogenic | 0.9406 | pathogenic | -0.054 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.6522 | likely_pathogenic | 0.6441 | pathogenic | -0.052 | Destabilizing | None | None | None | None | N | 0.427579078 | None | None | N |
| K/F | 0.9755 | likely_pathogenic | 0.9803 | pathogenic | -0.204 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.8161 | likely_pathogenic | 0.8249 | pathogenic | -0.108 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.687 | likely_pathogenic | 0.7436 | pathogenic | -0.268 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.8803 | likely_pathogenic | 0.8973 | pathogenic | 0.414 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/L | 0.8011 | likely_pathogenic | 0.8129 | pathogenic | 0.414 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.7885 | likely_pathogenic | 0.7779 | pathogenic | 0.055 | Stabilizing | None | None | None | None | N | 0.428619228 | None | None | N |
| K/N | 0.9011 | likely_pathogenic | 0.8966 | pathogenic | 0.092 | Stabilizing | None | None | None | None | N | 0.428272511 | None | None | N |
| K/P | 0.9171 | likely_pathogenic | 0.9397 | pathogenic | 0.322 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.3512 | ambiguous | 0.3733 | ambiguous | -0.039 | Destabilizing | None | None | None | None | N | 0.428099153 | None | None | N |
| K/R | 0.1074 | likely_benign | 0.1269 | benign | -0.065 | Destabilizing | None | None | None | None | N | 0.409166675 | None | None | N |
| K/S | 0.8669 | likely_pathogenic | 0.8575 | pathogenic | -0.323 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.6935 | likely_pathogenic | 0.7064 | pathogenic | -0.186 | Destabilizing | None | None | None | None | N | 0.427579078 | None | None | N |
| K/V | 0.8319 | likely_pathogenic | 0.8516 | pathogenic | 0.322 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.9486 | likely_pathogenic | 0.9653 | pathogenic | -0.281 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.9299 | likely_pathogenic | 0.9459 | pathogenic | 0.079 | 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.