Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34038 | 102337;102338;102339 | chr2:178534503;178534502;178534501 | chr2:179399230;179399229;179399228 |
| N2AB | 32397 | 97414;97415;97416 | chr2:178534503;178534502;178534501 | chr2:179399230;179399229;179399228 |
| N2A | 31470 | 94633;94634;94635 | chr2:178534503;178534502;178534501 | chr2:179399230;179399229;179399228 |
| N2B | 24973 | 75142;75143;75144 | chr2:178534503;178534502;178534501 | chr2:179399230;179399229;179399228 |
| Novex-1 | 25098 | 75517;75518;75519 | chr2:178534503;178534502;178534501 | chr2:179399230;179399229;179399228 |
| Novex-2 | 25165 | 75718;75719;75720 | chr2:178534503;178534502;178534501 | chr2:179399230;179399229;179399228 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCA
- RefSeq wild type template codon: CGT
- Domain: Kinase-1
- Domain position: 226
- Q(SASA): 0.1051
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | None | N | None | 0.421 | 0.447213685739 | gnomAD-4.0.0 | 6.84246E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65662E-05 |
| A/T | rs1690579265  |
None | None | N | None | 0.326 | 0.397391247328 | gnomAD-4.0.0 | 6.84246E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99462E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7086 | likely_pathogenic | 0.7105 | pathogenic | -0.733 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.6305 | likely_pathogenic | 0.6397 | pathogenic | -0.972 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/E | 0.5547 | ambiguous | 0.5732 | pathogenic | -0.966 | Destabilizing | None | None | None | None | N | 0.424214351 | None | None | N |
| A/F | 0.7311 | likely_pathogenic | 0.749 | pathogenic | -0.842 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.3108 | likely_benign | 0.3107 | benign | -1.128 | Destabilizing | None | None | None | None | N | 0.454577331 | None | None | N |
| A/H | 0.7699 | likely_pathogenic | 0.7713 | pathogenic | -1.356 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.5838 | likely_pathogenic | 0.639 | pathogenic | -0.151 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.8278 | likely_pathogenic | 0.8086 | pathogenic | -1.115 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.4939 | ambiguous | 0.5258 | ambiguous | -0.151 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.5416 | ambiguous | 0.5745 | pathogenic | -0.115 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.5205 | ambiguous | 0.5547 | ambiguous | -0.87 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.7643 | likely_pathogenic | 0.8025 | pathogenic | -0.334 | Destabilizing | None | None | None | None | N | 0.437338364 | None | None | N |
| A/Q | 0.6065 | likely_pathogenic | 0.6161 | pathogenic | -0.948 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.7195 | likely_pathogenic | 0.7046 | pathogenic | -0.872 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1424 | likely_benign | 0.1572 | benign | -1.268 | Destabilizing | None | None | None | None | N | 0.451574311 | None | None | N |
| A/T | 0.2048 | likely_benign | 0.2298 | benign | -1.157 | Destabilizing | None | None | None | None | N | 0.453537181 | None | None | N |
| A/V | 0.3328 | likely_benign | 0.3594 | ambiguous | -0.334 | Destabilizing | None | None | None | None | N | 0.437799724 | None | None | N |
| A/W | 0.9337 | likely_pathogenic | 0.9428 | pathogenic | -1.276 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.7782 | likely_pathogenic | 0.7914 | pathogenic | -0.822 | 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.