Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33937 | 102034;102035;102036 | chr2:178534806;178534805;178534804 | chr2:179399533;179399532;179399531 |
| N2AB | 32296 | 97111;97112;97113 | chr2:178534806;178534805;178534804 | chr2:179399533;179399532;179399531 |
| N2A | 31369 | 94330;94331;94332 | chr2:178534806;178534805;178534804 | chr2:179399533;179399532;179399531 |
| N2B | 24872 | 74839;74840;74841 | chr2:178534806;178534805;178534804 | chr2:179399533;179399532;179399531 |
| Novex-1 | 24997 | 75214;75215;75216 | chr2:178534806;178534805;178534804 | chr2:179399533;179399532;179399531 |
| Novex-2 | 25064 | 75415;75416;75417 | chr2:178534806;178534805;178534804 | chr2:179399533;179399532;179399531 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAC
- RefSeq wild type template codon: GTG
- Domain: Kinase-1
- Domain position: 125
- Q(SASA): 0.1072
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/N | rs1690708183  |
None | None | D | None | 0.571 | 0.322786055943 | gnomAD-4.0.0 | 3.1943E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71621E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.8925 | likely_pathogenic | 0.8809 | pathogenic | -2.102 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.5312 | ambiguous | 0.52 | ambiguous | -1.269 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.8792 | likely_pathogenic | 0.8655 | pathogenic | -2.057 | Highly Destabilizing | None | None | None | None | D | 0.628301406 | None | None | N |
| H/E | 0.9261 | likely_pathogenic | 0.9136 | pathogenic | -1.823 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.7004 | likely_pathogenic | 0.6762 | pathogenic | -0.128 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.9216 | likely_pathogenic | 0.9149 | pathogenic | -2.552 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.8583 | likely_pathogenic | 0.8363 | pathogenic | -0.74 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.8905 | likely_pathogenic | 0.8858 | pathogenic | -1.223 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.5598 | ambiguous | 0.5358 | ambiguous | -0.74 | Destabilizing | None | None | None | None | D | 0.61208024 | None | None | N |
| H/M | 0.8847 | likely_pathogenic | 0.8697 | pathogenic | -0.951 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.4857 | ambiguous | 0.4622 | ambiguous | -2.187 | Highly Destabilizing | None | None | None | None | D | 0.612282045 | None | None | N |
| H/P | 0.7478 | likely_pathogenic | 0.7345 | pathogenic | -1.189 | Destabilizing | None | None | None | None | D | 0.62850321 | None | None | N |
| H/Q | 0.8255 | likely_pathogenic | 0.807 | pathogenic | -1.739 | Destabilizing | None | None | None | None | D | 0.628301406 | None | None | N |
| H/R | 0.7595 | likely_pathogenic | 0.7528 | pathogenic | -1.327 | Destabilizing | None | None | None | None | D | 0.628301406 | None | None | N |
| H/S | 0.7709 | likely_pathogenic | 0.7574 | pathogenic | -2.384 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.8782 | likely_pathogenic | 0.8693 | pathogenic | -2.014 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.836 | likely_pathogenic | 0.8167 | pathogenic | -1.189 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.7951 | likely_pathogenic | 0.7635 | pathogenic | 0.583 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.3719 | ambiguous | 0.3548 | ambiguous | 0.288 | Stabilizing | None | None | None | None | D | 0.530414389 | 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.