Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33953 | 102082;102083;102084 | chr2:178534758;178534757;178534756 | chr2:179399485;179399484;179399483 |
| N2AB | 32312 | 97159;97160;97161 | chr2:178534758;178534757;178534756 | chr2:179399485;179399484;179399483 |
| N2A | 31385 | 94378;94379;94380 | chr2:178534758;178534757;178534756 | chr2:179399485;179399484;179399483 |
| N2B | 24888 | 74887;74888;74889 | chr2:178534758;178534757;178534756 | chr2:179399485;179399484;179399483 |
| Novex-1 | 25013 | 75262;75263;75264 | chr2:178534758;178534757;178534756 | chr2:179399485;179399484;179399483 |
| Novex-2 | 25080 | 75463;75464;75465 | chr2:178534758;178534757;178534756 | chr2:179399485;179399484;179399483 |
| 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: 141
- Q(SASA): 0.3702
- 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/C | rs1575284524  |
None | None | N | None | 0.312 | 0.264547087235 | gnomAD-4.0.0 | 9.54885E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.66362E-04 | 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 | 0.1279 | likely_benign | 0.1329 | benign | -0.67 | Destabilizing | None | None | None | None | N | 0.425866924 | None | None | N |
| S/C | 0.229 | likely_benign | 0.2343 | benign | -0.412 | Destabilizing | None | None | None | None | N | 0.432851612 | None | None | N |
| S/D | 0.6327 | likely_pathogenic | 0.5506 | ambiguous | 0.232 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.6911 | likely_pathogenic | 0.6751 | pathogenic | 0.161 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.5658 | likely_pathogenic | 0.6184 | pathogenic | -1.189 | Destabilizing | None | None | None | None | N | 0.453264169 | None | None | N |
| S/G | 0.1985 | likely_benign | 0.1783 | benign | -0.812 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.5322 | ambiguous | 0.5202 | ambiguous | -1.268 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.513 | ambiguous | 0.5636 | ambiguous | -0.42 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.8004 | likely_pathogenic | 0.7781 | pathogenic | -0.497 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.3169 | likely_benign | 0.3498 | ambiguous | -0.42 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.4422 | ambiguous | 0.4836 | ambiguous | -0.109 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.2753 | likely_benign | 0.2529 | benign | -0.286 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.4687 | ambiguous | 0.3231 | benign | -0.474 | Destabilizing | None | None | None | None | N | 0.443625966 | None | None | N |
| S/Q | 0.6263 | likely_pathogenic | 0.6176 | pathogenic | -0.521 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.7478 | likely_pathogenic | 0.7244 | pathogenic | -0.302 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.1492 | likely_benign | 0.1721 | benign | -0.419 | Destabilizing | None | None | None | None | N | 0.453784244 | None | None | N |
| S/V | 0.4397 | ambiguous | 0.4809 | ambiguous | -0.474 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.6969 | likely_pathogenic | 0.7111 | pathogenic | -1.127 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.4252 | ambiguous | 0.4491 | ambiguous | -0.871 | Destabilizing | None | None | None | None | N | 0.464019881 | 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.