Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34119 | 102580;102581;102582 | chr2:178534260;178534259;178534258 | chr2:179398987;179398986;179398985 |
| N2AB | 32478 | 97657;97658;97659 | chr2:178534260;178534259;178534258 | chr2:179398987;179398986;179398985 |
| N2A | 31551 | 94876;94877;94878 | chr2:178534260;178534259;178534258 | chr2:179398987;179398986;179398985 |
| N2B | 25054 | 75385;75386;75387 | chr2:178534260;178534259;178534258 | chr2:179398987;179398986;179398985 |
| Novex-1 | 25179 | 75760;75761;75762 | chr2:178534260;178534259;178534258 | chr2:179398987;179398986;179398985 |
| Novex-2 | 25246 | 75961;75962;75963 | chr2:178534260;178534259;178534258 | chr2:179398987;179398986;179398985 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: TCT
- RefSeq wild type template codon: AGA
- Domain: Kinase-1
- Domain position: 307
- Q(SASA): 0.2208
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | None | None | None | N | None | 0.222 | 0.497679007273 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 3.66327E-05 |
| S/P | rs1690455117  |
None | None | N | None | 0.235 | 0.184867976434 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 5.65483E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1731 | likely_benign | 0.204 | benign | -0.346 | Destabilizing | None | None | None | None | N | 0.446128419 | None | None | N |
| S/C | 0.2016 | likely_benign | 0.2611 | benign | -0.45 | Destabilizing | None | None | None | None | N | 0.447862002 | None | None | N |
| S/D | 0.7402 | likely_pathogenic | 0.7488 | pathogenic | 0.446 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.8179 | likely_pathogenic | 0.7951 | pathogenic | 0.412 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.561 | ambiguous | 0.6336 | pathogenic | -0.836 | Destabilizing | None | None | None | None | N | 0.447341927 | None | None | N |
| S/G | 0.1319 | likely_benign | 0.1826 | benign | -0.504 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.5718 | likely_pathogenic | 0.5866 | pathogenic | -0.779 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.4473 | ambiguous | 0.5091 | ambiguous | -0.052 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.8799 | likely_pathogenic | 0.8716 | pathogenic | -0.292 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.2761 | likely_benign | 0.3528 | ambiguous | -0.052 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.4222 | ambiguous | 0.4666 | ambiguous | -0.247 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.2106 | likely_benign | 0.2771 | benign | -0.247 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.5711 | likely_pathogenic | 0.643 | pathogenic | -0.119 | Destabilizing | None | None | None | None | N | 0.447515286 | None | None | N |
| S/Q | 0.7119 | likely_pathogenic | 0.6972 | pathogenic | -0.326 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.8356 | likely_pathogenic | 0.8371 | pathogenic | -0.157 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.173 | likely_benign | 0.2144 | benign | -0.301 | Destabilizing | None | None | None | None | N | 0.445955061 | None | None | N |
| S/V | 0.4526 | ambiguous | 0.5051 | ambiguous | -0.119 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.6735 | likely_pathogenic | 0.7217 | pathogenic | -0.911 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.4347 | ambiguous | 0.4651 | ambiguous | -0.573 | Destabilizing | None | None | None | None | N | 0.447515286 | 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.