Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34098 | 102517;102518;102519 | chr2:178534323;178534322;178534321 | chr2:179399050;179399049;179399048 |
| N2AB | 32457 | 97594;97595;97596 | chr2:178534323;178534322;178534321 | chr2:179399050;179399049;179399048 |
| N2A | 31530 | 94813;94814;94815 | chr2:178534323;178534322;178534321 | chr2:179399050;179399049;179399048 |
| N2B | 25033 | 75322;75323;75324 | chr2:178534323;178534322;178534321 | chr2:179399050;179399049;179399048 |
| Novex-1 | 25158 | 75697;75698;75699 | chr2:178534323;178534322;178534321 | chr2:179399050;179399049;179399048 |
| Novex-2 | 25225 | 75898;75899;75900 | chr2:178534323;178534322;178534321 | chr2:179399050;179399049;179399048 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATC
- RefSeq wild type template codon: TAG
- Domain: Kinase-1
- Domain position: 286
- Q(SASA): 0.146
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | None | N | None | 0.123 | 0.252681307341 | gnomAD-4.0.0 | 1.59223E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85791E-06 | 0 | 0 |
| I/T | rs1480810435  |
None | None | N | None | 0.197 | 0.356690202451 | 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 |
| I/T | rs1480810435 |
None | None | N | None | 0.197 | 0.356690202451 | gnomAD-4.0.0 | 6.57289E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.6772 | likely_pathogenic | 0.7565 | pathogenic | -1.651 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.8574 | likely_pathogenic | 0.902 | pathogenic | -0.888 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9492 | likely_pathogenic | 0.9728 | pathogenic | -1.094 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.8222 | likely_pathogenic | 0.8844 | pathogenic | -1.024 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.4393 | ambiguous | 0.5901 | pathogenic | -0.998 | Destabilizing | None | None | None | None | N | 0.40968675 | None | None | N |
| I/G | 0.8793 | likely_pathogenic | 0.9319 | pathogenic | -2.035 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.8517 | likely_pathogenic | 0.924 | pathogenic | -1.314 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.6839 | likely_pathogenic | 0.7785 | pathogenic | -1.16 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1897 | likely_benign | 0.2352 | benign | -0.641 | Destabilizing | None | None | None | None | N | 0.408126525 | None | None | N |
| I/M | 0.2104 | likely_benign | 0.2603 | benign | -0.497 | Destabilizing | None | None | None | None | N | 0.410033467 | None | None | N |
| I/N | 0.6776 | likely_pathogenic | 0.7858 | pathogenic | -1.068 | Destabilizing | None | None | None | None | N | 0.40968675 | None | None | N |
| I/P | 0.9309 | likely_pathogenic | 0.9649 | pathogenic | -0.948 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.6554 | likely_pathogenic | 0.7706 | pathogenic | -1.122 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.5521 | ambiguous | 0.6851 | pathogenic | -0.707 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.642 | likely_pathogenic | 0.7439 | pathogenic | -1.705 | Destabilizing | None | None | None | None | N | 0.4086466 | None | None | N |
| I/T | 0.6172 | likely_pathogenic | 0.691 | pathogenic | -1.509 | Destabilizing | None | None | None | None | N | 0.4086466 | None | None | N |
| I/V | 0.1384 | likely_benign | 0.1401 | benign | -0.948 | Destabilizing | None | None | None | None | N | 0.390234198 | None | None | N |
| I/W | 0.922 | likely_pathogenic | 0.9653 | pathogenic | -1.177 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.7814 | likely_pathogenic | 0.884 | pathogenic | -0.918 | 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.