Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33930 | 102013;102014;102015 | chr2:178534827;178534826;178534825 | chr2:179399554;179399553;179399552 |
| N2AB | 32289 | 97090;97091;97092 | chr2:178534827;178534826;178534825 | chr2:179399554;179399553;179399552 |
| N2A | 31362 | 94309;94310;94311 | chr2:178534827;178534826;178534825 | chr2:179399554;179399553;179399552 |
| N2B | 24865 | 74818;74819;74820 | chr2:178534827;178534826;178534825 | chr2:179399554;179399553;179399552 |
| Novex-1 | 24990 | 75193;75194;75195 | chr2:178534827;178534826;178534825 | chr2:179399554;179399553;179399552 |
| Novex-2 | 25057 | 75394;75395;75396 | chr2:178534827;178534826;178534825 | chr2:179399554;179399553;179399552 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: TTA
- RefSeq wild type template codon: AAT
- Domain: Kinase-1
- Domain position: 118
- Q(SASA): 0.1271
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/S | None | None | None | N | None | 0.703 | 0.834935352713 | gnomAD-4.0.0 | 2.40067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62504E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9379 | likely_pathogenic | 0.9293 | pathogenic | -2.75 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.9279 | likely_pathogenic | 0.9048 | pathogenic | -2.141 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -3.57 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9899 | likely_pathogenic | 0.9881 | pathogenic | -3.272 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.7208 | likely_pathogenic | 0.6796 | pathogenic | -1.616 | Destabilizing | None | None | None | None | N | 0.507828601 | None | None | N |
| L/G | 0.9894 | likely_pathogenic | 0.9886 | pathogenic | -3.345 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.9727 | likely_pathogenic | 0.9679 | pathogenic | -3.109 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.462 | ambiguous | 0.3889 | ambiguous | -0.968 | Destabilizing | None | None | None | None | N | 0.517927015 | None | None | N |
| L/K | 0.9862 | likely_pathogenic | 0.9832 | pathogenic | -2.137 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.4702 | ambiguous | 0.3868 | ambiguous | -1.12 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.9902 | likely_pathogenic | 0.9895 | pathogenic | -2.793 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9958 | likely_pathogenic | 0.9951 | pathogenic | -1.551 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Q | 0.9519 | likely_pathogenic | 0.9402 | pathogenic | -2.473 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.973 | likely_pathogenic | 0.9668 | pathogenic | -2.103 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/S | 0.9777 | likely_pathogenic | 0.975 | pathogenic | -3.362 | Highly Destabilizing | None | None | None | None | N | 0.517552291 | None | None | N |
| L/T | 0.9552 | likely_pathogenic | 0.9456 | pathogenic | -2.908 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.6173 | likely_pathogenic | 0.5154 | ambiguous | -1.551 | Destabilizing | None | None | None | None | N | 0.475681788 | None | None | N |
| L/W | 0.9447 | likely_pathogenic | 0.9276 | pathogenic | -2.151 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.9669 | likely_pathogenic | 0.9603 | pathogenic | -1.911 | 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.