Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34061 | 102406;102407;102408 | chr2:178534434;178534433;178534432 | chr2:179399161;179399160;179399159 |
| N2AB | 32420 | 97483;97484;97485 | chr2:178534434;178534433;178534432 | chr2:179399161;179399160;179399159 |
| N2A | 31493 | 94702;94703;94704 | chr2:178534434;178534433;178534432 | chr2:179399161;179399160;179399159 |
| N2B | 24996 | 75211;75212;75213 | chr2:178534434;178534433;178534432 | chr2:179399161;179399160;179399159 |
| Novex-1 | 25121 | 75586;75587;75588 | chr2:178534434;178534433;178534432 | chr2:179399161;179399160;179399159 |
| Novex-2 | 25188 | 75787;75788;75789 | chr2:178534434;178534433;178534432 | chr2:179399161;179399160;179399159 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: CGC
- RefSeq wild type template codon: GCG
- Domain: Kinase-1
- Domain position: 249
- Q(SASA): 0.0685
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs879220772  |
None | None | D | None | 0.766 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| R/C | rs879220772 |
None | None | D | None | 0.766 | None | gnomAD-4.0.0 | 8.98247E-06 | None | None | None | None | N | None | 5.07322E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78574E-06 | 2.68039E-05 | 0 |
| R/H | rs774174825 |
-2.206 | None | D | None | 0.799 | 0.669635189018 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 8.88E-06 | 0 |
| R/H | rs774174825 |
-2.206 | None | D | None | 0.799 | 0.669635189018 | gnomAD-4.0.0 | 1.02726E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.55782E-05 | None | 0 | 0 | 9.89397E-06 | 0 | 1.65662E-05 |
| R/L | None | None | None | D | None | 0.78 | 0.89149790784 | gnomAD-4.0.0 | 6.84839E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99452E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9481 | likely_pathogenic | 0.9196 | pathogenic | -1.856 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.7735 | likely_pathogenic | 0.7109 | pathogenic | -2.187 | Highly Destabilizing | None | None | None | None | D | 0.643167072 | None | None | N |
| R/D | 0.9854 | likely_pathogenic | 0.9776 | pathogenic | -1.372 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.9139 | likely_pathogenic | 0.872 | pathogenic | -1.229 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.9801 | likely_pathogenic | 0.9656 | pathogenic | -1.625 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.9146 | likely_pathogenic | 0.8737 | pathogenic | -2.103 | Highly Destabilizing | None | None | None | None | D | 0.643167072 | None | None | N |
| R/H | 0.6828 | likely_pathogenic | 0.6374 | pathogenic | -2.026 | Highly Destabilizing | None | None | None | None | D | 0.642965268 | None | None | N |
| R/I | 0.9086 | likely_pathogenic | 0.855 | pathogenic | -1.165 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/K | 0.6545 | likely_pathogenic | 0.5949 | pathogenic | -1.832 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/L | 0.8494 | likely_pathogenic | 0.7936 | pathogenic | -1.165 | Destabilizing | None | None | None | None | D | 0.642965268 | None | None | N |
| R/M | 0.9496 | likely_pathogenic | 0.917 | pathogenic | -1.536 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.9739 | likely_pathogenic | 0.9615 | pathogenic | -1.561 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.9538 | likely_pathogenic | 0.9344 | pathogenic | -1.384 | Destabilizing | None | None | None | None | D | 0.643167072 | None | None | N |
| R/Q | 0.6559 | likely_pathogenic | 0.5894 | pathogenic | -1.617 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.9723 | likely_pathogenic | 0.9568 | pathogenic | -2.296 | Highly Destabilizing | None | None | None | None | D | 0.642965268 | None | None | N |
| R/T | 0.9432 | likely_pathogenic | 0.9048 | pathogenic | -1.988 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/V | 0.9233 | likely_pathogenic | 0.8867 | pathogenic | -1.384 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.8737 | likely_pathogenic | 0.8009 | pathogenic | -1.293 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.9526 | likely_pathogenic | 0.9216 | pathogenic | -1.02 | 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.