Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34010 | 102253;102254;102255 | chr2:178534587;178534586;178534585 | chr2:179399314;179399313;179399312 |
| N2AB | 32369 | 97330;97331;97332 | chr2:178534587;178534586;178534585 | chr2:179399314;179399313;179399312 |
| N2A | 31442 | 94549;94550;94551 | chr2:178534587;178534586;178534585 | chr2:179399314;179399313;179399312 |
| N2B | 24945 | 75058;75059;75060 | chr2:178534587;178534586;178534585 | chr2:179399314;179399313;179399312 |
| Novex-1 | 25070 | 75433;75434;75435 | chr2:178534587;178534586;178534585 | chr2:179399314;179399313;179399312 |
| Novex-2 | 25137 | 75634;75635;75636 | chr2:178534587;178534586;178534585 | chr2:179399314;179399313;179399312 |
| 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: 198
- Q(SASA): 0.0803
- 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 | None | None | None | N | None | 0.323 | 0.191931220699 | gnomAD-4.0.0 | 2.73676E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59783E-06 | 0 | 0 |
| S/R | rs727503534  |
-0.211 | None | N | None | 0.439 | 0.254244900254 | gnomAD-2.1.1 | 2.41E-05 | None | None | None | None | N | None | 0 | 1.73822E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs727503534 |
-0.211 | None | N | None | 0.439 | 0.254244900254 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| S/R | rs727503534 |
-0.211 | None | N | None | 0.439 | 0.254244900254 | gnomAD-4.0.0 | 1.859E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.29359E-05 | 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 | 0.248 | likely_benign | 0.231 | benign | -0.536 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.3528 | ambiguous | 0.3092 | benign | -0.182 | Destabilizing | None | None | None | None | N | 0.463521235 | None | None | N |
| S/D | 0.9838 | likely_pathogenic | 0.9809 | pathogenic | -1.474 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.9814 | likely_pathogenic | 0.9778 | pathogenic | -1.217 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.9625 | likely_pathogenic | 0.9496 | pathogenic | -0.324 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.4305 | ambiguous | 0.4161 | ambiguous | -0.976 | Destabilizing | None | None | None | None | N | 0.504541138 | None | None | N |
| S/H | 0.9499 | likely_pathogenic | 0.9355 | pathogenic | -1.285 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.9323 | likely_pathogenic | 0.9172 | pathogenic | 0.608 | Stabilizing | None | None | None | None | N | 0.45531372 | None | None | N |
| S/K | 0.995 | likely_pathogenic | 0.9927 | pathogenic | 0.117 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.7224 | likely_pathogenic | 0.6701 | pathogenic | 0.608 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.8541 | likely_pathogenic | 0.8175 | pathogenic | 0.368 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.9043 | likely_pathogenic | 0.8912 | pathogenic | -0.85 | Destabilizing | None | None | None | None | N | 0.470797856 | None | None | N |
| S/P | 0.986 | likely_pathogenic | 0.9802 | pathogenic | 0.261 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.9707 | likely_pathogenic | 0.961 | pathogenic | -0.414 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.9901 | likely_pathogenic | 0.9855 | pathogenic | -0.495 | Destabilizing | None | None | None | None | N | 0.468075604 | None | None | N |
| S/T | 0.3256 | likely_benign | 0.3036 | benign | -0.388 | Destabilizing | None | None | None | None | N | 0.432462036 | None | None | N |
| S/V | 0.8584 | likely_pathogenic | 0.829 | pathogenic | 0.261 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.9697 | likely_pathogenic | 0.9585 | pathogenic | -0.753 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.937 | likely_pathogenic | 0.9131 | pathogenic | -0.196 | 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.