Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34051 | 102376;102377;102378 | chr2:178534464;178534463;178534462 | chr2:179399191;179399190;179399189 |
| N2AB | 32410 | 97453;97454;97455 | chr2:178534464;178534463;178534462 | chr2:179399191;179399190;179399189 |
| N2A | 31483 | 94672;94673;94674 | chr2:178534464;178534463;178534462 | chr2:179399191;179399190;179399189 |
| N2B | 24986 | 75181;75182;75183 | chr2:178534464;178534463;178534462 | chr2:179399191;179399190;179399189 |
| Novex-1 | 25111 | 75556;75557;75558 | chr2:178534464;178534463;178534462 | chr2:179399191;179399190;179399189 |
| Novex-2 | 25178 | 75757;75758;75759 | chr2:178534464;178534463;178534462 | chr2:179399191;179399190;179399189 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: D
- RefSeq wild type transcript codon: GAC
- RefSeq wild type template codon: CTG
- Domain: Kinase-1
- Domain position: 239
- Q(SASA): 0.3324
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | None | N | None | 0.077 | 0.204665344411 | gnomAD-4.0.0 | 6.84435E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 0 | 0 |
| D/Y | None | None | None | N | None | 0.464 | 0.566408210792 | gnomAD-4.0.0 | 1.59237E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43365E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8842 | likely_pathogenic | 0.8287 | pathogenic | -0.178 | Destabilizing | None | None | None | None | N | 0.43989588 | None | None | N |
| D/C | 0.9796 | likely_pathogenic | 0.9672 | pathogenic | -0.044 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/E | 0.7297 | likely_pathogenic | 0.644 | pathogenic | -0.605 | Destabilizing | None | None | None | None | N | 0.426041148 | None | None | N |
| D/F | 0.982 | likely_pathogenic | 0.9677 | pathogenic | 0.479 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/G | 0.8256 | likely_pathogenic | 0.7628 | pathogenic | -0.601 | Destabilizing | None | None | None | None | N | 0.45576941 | None | None | N |
| D/H | 0.8859 | likely_pathogenic | 0.8115 | pathogenic | 0.127 | Stabilizing | None | None | None | None | N | 0.473163092 | None | None | N |
| D/I | 0.9825 | likely_pathogenic | 0.9667 | pathogenic | 0.955 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/K | 0.9512 | likely_pathogenic | 0.9066 | pathogenic | -0.202 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/L | 0.9548 | likely_pathogenic | 0.9283 | pathogenic | 0.955 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/M | 0.9911 | likely_pathogenic | 0.9853 | pathogenic | 1.362 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/N | 0.6339 | likely_pathogenic | 0.5142 | ambiguous | -0.894 | Destabilizing | None | None | None | None | N | 0.431180396 | None | None | N |
| D/P | 0.9952 | likely_pathogenic | 0.9923 | pathogenic | 0.605 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/Q | 0.9225 | likely_pathogenic | 0.8734 | pathogenic | -0.625 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/R | 0.9404 | likely_pathogenic | 0.8937 | pathogenic | -0.068 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/S | 0.7014 | likely_pathogenic | 0.5831 | pathogenic | -1.142 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/T | 0.9312 | likely_pathogenic | 0.8839 | pathogenic | -0.768 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/V | 0.9436 | likely_pathogenic | 0.9031 | pathogenic | 0.605 | Stabilizing | None | None | None | None | N | 0.463466173 | None | None | N |
| D/W | 0.9937 | likely_pathogenic | 0.9896 | pathogenic | 0.634 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/Y | 0.8718 | likely_pathogenic | 0.7801 | pathogenic | 0.734 | Stabilizing | None | None | None | None | N | 0.469661427 | 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.