Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33951 | 102076;102077;102078 | chr2:178534764;178534763;178534762 | chr2:179399491;179399490;179399489 |
| N2AB | 32310 | 97153;97154;97155 | chr2:178534764;178534763;178534762 | chr2:179399491;179399490;179399489 |
| N2A | 31383 | 94372;94373;94374 | chr2:178534764;178534763;178534762 | chr2:179399491;179399490;179399489 |
| N2B | 24886 | 74881;74882;74883 | chr2:178534764;178534763;178534762 | chr2:179399491;179399490;179399489 |
| Novex-1 | 25011 | 75256;75257;75258 | chr2:178534764;178534763;178534762 | chr2:179399491;179399490;179399489 |
| Novex-2 | 25078 | 75457;75458;75459 | chr2:178534764;178534763;178534762 | chr2:179399491;179399490;179399489 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: AGA
- RefSeq wild type template codon: TCT
- Domain: Kinase-1
- Domain position: 139
- Q(SASA): 0.6352
- 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/S | rs761821275  |
-0.166 | None | N | None | 0.183 | 0.136095386433 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 9.94E-05 | 1.67168E-04 | None | 0 | None | 0 | 0 | 1.65782E-04 |
| R/S | rs761821275 |
-0.166 | None | N | None | 0.183 | 0.136095386433 | gnomAD-4.0.0 | 6.36665E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.5457E-05 | None | 0 | 0 | 0 | 0 | 6.04851E-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 | 0.6378 | likely_pathogenic | 0.5725 | pathogenic | -0.011 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.4681 | ambiguous | 0.429 | ambiguous | -0.242 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.7682 | likely_pathogenic | 0.7235 | pathogenic | -0.242 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.5413 | ambiguous | 0.4799 | ambiguous | -0.212 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.807 | likely_pathogenic | 0.7568 | pathogenic | -0.371 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.4037 | ambiguous | 0.3395 | benign | -0.132 | Destabilizing | None | None | None | None | N | 0.468141274 | None | None | N |
| R/H | 0.2277 | likely_benign | 0.2193 | benign | -0.603 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.5457 | ambiguous | 0.4754 | ambiguous | 0.262 | Stabilizing | None | None | None | None | N | 0.485350388 | None | None | N |
| R/K | 0.1528 | likely_benign | 0.1341 | benign | -0.156 | Destabilizing | None | None | None | None | N | 0.437431578 | None | None | N |
| R/L | 0.4904 | ambiguous | 0.4366 | ambiguous | 0.262 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.5437 | ambiguous | 0.4812 | ambiguous | -0.076 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.6525 | likely_pathogenic | 0.61 | pathogenic | -0.027 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.8591 | likely_pathogenic | 0.8205 | pathogenic | 0.188 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.1896 | likely_benign | 0.1762 | benign | -0.092 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.6559 | likely_pathogenic | 0.6115 | pathogenic | -0.243 | Destabilizing | None | None | None | None | N | 0.464791538 | None | None | N |
| R/T | 0.4566 | ambiguous | 0.3956 | ambiguous | -0.114 | Destabilizing | None | None | None | None | N | 0.48620696 | None | None | N |
| R/V | 0.6607 | likely_pathogenic | 0.6066 | pathogenic | 0.188 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.4595 | ambiguous | 0.3935 | ambiguous | -0.55 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.6615 | likely_pathogenic | 0.6177 | pathogenic | -0.145 | 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.