Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33919 | 101980;101981;101982 | chr2:178534860;178534859;178534858 | chr2:179399587;179399586;179399585 |
| N2AB | 32278 | 97057;97058;97059 | chr2:178534860;178534859;178534858 | chr2:179399587;179399586;179399585 |
| N2A | 31351 | 94276;94277;94278 | chr2:178534860;178534859;178534858 | chr2:179399587;179399586;179399585 |
| N2B | 24854 | 74785;74786;74787 | chr2:178534860;178534859;178534858 | chr2:179399587;179399586;179399585 |
| Novex-1 | 24979 | 75160;75161;75162 | chr2:178534860;178534859;178534858 | chr2:179399587;179399586;179399585 |
| Novex-2 | 25046 | 75361;75362;75363 | chr2:178534860;178534859;178534858 | chr2:179399587;179399586;179399585 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Y
- RefSeq wild type transcript codon: TAT
- RefSeq wild type template codon: ATA
- Domain: Kinase-1
- Domain position: 107
- Q(SASA): 0.1069
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/F | None | None | None | N | None | 0.437 | 0.363158594168 | gnomAD-4.0.0 | 1.6046E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85819E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9331 | likely_pathogenic | 0.9234 | pathogenic | -2.016 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/C | 0.6216 | likely_pathogenic | 0.5804 | pathogenic | -1.708 | Destabilizing | None | None | None | None | N | 0.503695776 | None | None | N |
| Y/D | 0.9649 | likely_pathogenic | 0.9504 | pathogenic | -2.887 | Highly Destabilizing | None | None | None | None | N | 0.477509807 | None | None | N |
| Y/E | 0.9889 | likely_pathogenic | 0.9868 | pathogenic | -2.647 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/F | 0.1842 | likely_benign | 0.1812 | benign | -0.588 | Destabilizing | None | None | None | None | N | 0.435526557 | None | None | N |
| Y/G | 0.9378 | likely_pathogenic | 0.9263 | pathogenic | -2.462 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/H | 0.8403 | likely_pathogenic | 0.8205 | pathogenic | -1.843 | Destabilizing | None | None | None | None | N | 0.465900012 | None | None | N |
| Y/I | 0.8721 | likely_pathogenic | 0.8571 | pathogenic | -0.558 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/K | 0.9835 | likely_pathogenic | 0.9815 | pathogenic | -2.031 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/L | 0.7172 | likely_pathogenic | 0.6812 | pathogenic | -0.558 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/M | 0.8902 | likely_pathogenic | 0.8829 | pathogenic | -0.687 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/N | 0.8862 | likely_pathogenic | 0.8563 | pathogenic | -2.998 | Highly Destabilizing | None | None | None | None | N | 0.488612622 | None | None | N |
| Y/P | 0.9979 | likely_pathogenic | 0.997 | pathogenic | -1.057 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/Q | 0.9799 | likely_pathogenic | 0.9767 | pathogenic | -2.514 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/R | 0.9528 | likely_pathogenic | 0.9501 | pathogenic | -2.335 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/S | 0.8314 | likely_pathogenic | 0.8008 | pathogenic | -3.267 | Highly Destabilizing | None | None | None | None | N | 0.488359133 | None | None | N |
| Y/T | 0.9005 | likely_pathogenic | 0.8882 | pathogenic | -2.878 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/V | 0.7817 | likely_pathogenic | 0.7564 | pathogenic | -1.057 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Y/W | 0.7913 | likely_pathogenic | 0.7879 | pathogenic | -0.085 | 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.