Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34095 | 102508;102509;102510 | chr2:178534332;178534331;178534330 | chr2:179399059;179399058;179399057 |
| N2AB | 32454 | 97585;97586;97587 | chr2:178534332;178534331;178534330 | chr2:179399059;179399058;179399057 |
| N2A | 31527 | 94804;94805;94806 | chr2:178534332;178534331;178534330 | chr2:179399059;179399058;179399057 |
| N2B | 25030 | 75313;75314;75315 | chr2:178534332;178534331;178534330 | chr2:179399059;179399058;179399057 |
| Novex-1 | 25155 | 75688;75689;75690 | chr2:178534332;178534331;178534330 | chr2:179399059;179399058;179399057 |
| Novex-2 | 25222 | 75889;75890;75891 | chr2:178534332;178534331;178534330 | chr2:179399059;179399058;179399057 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAC
- RefSeq wild type template codon: GTG
- Domain: Kinase-1
- Domain position: 283
- Q(SASA): 0.6317
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/P | rs1437743604  |
None | None | N | None | 0.291 | 0.289098819767 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/P | rs1437743604 |
None | None | N | None | 0.291 | 0.289098819767 | gnomAD-4.0.0 | 5.12826E-06 | None | None | None | None | I | None | 6.7659E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.5242 | ambiguous | 0.528 | ambiguous | 0.037 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/C | 0.4004 | ambiguous | 0.4764 | ambiguous | 0.468 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/D | 0.4485 | ambiguous | 0.4466 | ambiguous | 0.07 | Stabilizing | None | None | None | None | N | 0.4086466 | None | None | I |
| H/E | 0.4736 | ambiguous | 0.4371 | ambiguous | 0.125 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/F | 0.6269 | likely_pathogenic | 0.6437 | pathogenic | 0.875 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/G | 0.4957 | ambiguous | 0.5101 | ambiguous | -0.283 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/I | 0.7172 | likely_pathogenic | 0.7482 | pathogenic | 0.874 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/K | 0.3689 | ambiguous | 0.3634 | ambiguous | 0.069 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/L | 0.3173 | likely_benign | 0.3181 | benign | 0.874 | Stabilizing | None | None | None | None | N | 0.407433092 | None | None | I |
| H/M | 0.7232 | likely_pathogenic | 0.7452 | pathogenic | 0.616 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/N | 0.1891 | likely_benign | 0.1778 | benign | None | Stabilizing | None | None | None | None | N | 0.408819959 | None | None | I |
| H/P | 0.5779 | likely_pathogenic | 0.6287 | pathogenic | 0.62 | Stabilizing | None | None | None | None | N | 0.408473242 | None | None | I |
| H/Q | 0.2613 | likely_benign | 0.2472 | benign | 0.165 | Stabilizing | None | None | None | None | N | 0.379017127 | None | None | I |
| H/R | 0.2024 | likely_benign | 0.2057 | benign | -0.504 | Destabilizing | None | None | None | None | N | 0.408473242 | None | None | I |
| H/S | 0.3764 | ambiguous | 0.3725 | ambiguous | -0.009 | Destabilizing | None | None | None | None | None | None | None | None | I |
| H/T | 0.5449 | ambiguous | 0.5522 | ambiguous | 0.158 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/V | 0.6162 | likely_pathogenic | 0.6378 | pathogenic | 0.62 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/W | 0.627 | likely_pathogenic | 0.7118 | pathogenic | 0.977 | Stabilizing | None | None | None | None | None | None | None | None | I |
| H/Y | 0.2223 | likely_benign | 0.2262 | benign | 1.208 | Stabilizing | None | None | None | None | N | 0.408993317 | 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.