Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34124 | 102595;102596;102597 | chr2:178534245;178534244;178534243 | chr2:179398972;179398971;179398970 |
| N2AB | 32483 | 97672;97673;97674 | chr2:178534245;178534244;178534243 | chr2:179398972;179398971;179398970 |
| N2A | 31556 | 94891;94892;94893 | chr2:178534245;178534244;178534243 | chr2:179398972;179398971;179398970 |
| N2B | 25059 | 75400;75401;75402 | chr2:178534245;178534244;178534243 | chr2:179398972;179398971;179398970 |
| Novex-1 | 25184 | 75775;75776;75777 | chr2:178534245;178534244;178534243 | chr2:179398972;179398971;179398970 |
| Novex-2 | 25251 | 75976;75977;75978 | chr2:178534245;178534244;178534243 | chr2:179398972;179398971;179398970 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: AGT
- RefSeq wild type template codon: TCA
- Domain: Kinase-1
- Domain position: 312
- Q(SASA): 0.2175
- 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/N | rs1271436308  |
0.047 | None | N | None | 0.082 | 0.124217242631 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| S/N | rs1271436308 |
0.047 | None | N | None | 0.082 | 0.124217242631 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/N | rs1271436308 |
0.047 | None | N | None | 0.082 | 0.124217242631 | gnomAD-4.0.0 | 6.19627E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47547E-06 | 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 | 0.0943 | likely_benign | 0.1206 | benign | -0.341 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.1639 | likely_benign | 0.1704 | benign | -0.359 | Destabilizing | None | None | None | None | N | 0.428062733 | None | None | N |
| S/D | 0.5778 | likely_pathogenic | 0.5691 | pathogenic | 0.505 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.6825 | likely_pathogenic | 0.6384 | pathogenic | 0.459 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.3996 | ambiguous | 0.3976 | ambiguous | -0.767 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.1363 | likely_benign | 0.2113 | benign | -0.509 | Destabilizing | None | None | None | None | N | 0.4273693 | None | None | N |
| S/H | 0.4523 | ambiguous | 0.4139 | ambiguous | -0.863 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.2599 | likely_benign | 0.2755 | benign | -0.024 | Destabilizing | None | None | None | None | N | 0.427542658 | None | None | N |
| S/K | 0.757 | likely_pathogenic | 0.7425 | pathogenic | -0.315 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.1697 | likely_benign | 0.1835 | benign | -0.024 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.2549 | likely_benign | 0.2641 | benign | -0.099 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.1516 | likely_benign | 0.2042 | benign | -0.207 | Destabilizing | None | None | None | None | N | 0.426849225 | None | None | N |
| S/P | 0.284 | likely_benign | 0.4673 | ambiguous | -0.098 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.578 | likely_pathogenic | 0.5621 | ambiguous | -0.327 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.6949 | likely_pathogenic | 0.6889 | pathogenic | -0.189 | Destabilizing | None | None | None | None | N | 0.427022583 | None | None | N |
| S/T | 0.083 | likely_benign | 0.1106 | benign | -0.282 | Destabilizing | None | None | None | None | N | 0.426502508 | None | None | N |
| S/V | 0.2422 | likely_benign | 0.2663 | benign | -0.098 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.6028 | likely_pathogenic | 0.5484 | ambiguous | -0.803 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.3378 | likely_benign | 0.301 | benign | -0.489 | 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.