Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33997 | 102214;102215;102216 | chr2:178534626;178534625;178534624 | chr2:179399353;179399352;179399351 |
| N2AB | 32356 | 97291;97292;97293 | chr2:178534626;178534625;178534624 | chr2:179399353;179399352;179399351 |
| N2A | 31429 | 94510;94511;94512 | chr2:178534626;178534625;178534624 | chr2:179399353;179399352;179399351 |
| N2B | 24932 | 75019;75020;75021 | chr2:178534626;178534625;178534624 | chr2:179399353;179399352;179399351 |
| Novex-1 | 25057 | 75394;75395;75396 | chr2:178534626;178534625;178534624 | chr2:179399353;179399352;179399351 |
| Novex-2 | 25124 | 75595;75596;75597 | chr2:178534626;178534625;178534624 | chr2:179399353;179399352;179399351 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: D
- RefSeq wild type transcript codon: GAC
- RefSeq wild type template codon: CTG
- Domain: Kinase-1
- Domain position: 185
- Q(SASA): 0.1035
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | None | D | None | 0.82 | 0.638365919961 | gnomAD-4.0.0 | 1.59169E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.4332E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.971 | likely_pathogenic | 0.9619 | pathogenic | -1.098 | Destabilizing | None | None | None | None | D | 0.633939412 | None | None | N |
| D/C | 0.9963 | likely_pathogenic | 0.9953 | pathogenic | -0.807 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/E | 0.9311 | likely_pathogenic | 0.9077 | pathogenic | -0.736 | Destabilizing | None | None | None | None | D | 0.612005212 | None | None | N |
| D/F | 0.9979 | likely_pathogenic | 0.9971 | pathogenic | -1.305 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/G | 0.9659 | likely_pathogenic | 0.9588 | pathogenic | -1.45 | Destabilizing | None | None | None | None | D | 0.649989134 | None | None | N |
| D/H | 0.9843 | likely_pathogenic | 0.9786 | pathogenic | -1.475 | Destabilizing | None | None | None | None | D | 0.650190938 | None | None | N |
| D/I | 0.9958 | likely_pathogenic | 0.9929 | pathogenic | -0.139 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/K | 0.989 | likely_pathogenic | 0.983 | pathogenic | -1.341 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/L | 0.9908 | likely_pathogenic | 0.9895 | pathogenic | -0.139 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/M | 0.9983 | likely_pathogenic | 0.9974 | pathogenic | 0.494 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/N | 0.899 | likely_pathogenic | 0.874 | pathogenic | -1.522 | Destabilizing | None | None | None | None | D | 0.649383721 | None | None | N |
| D/P | 0.995 | likely_pathogenic | 0.9945 | pathogenic | -0.438 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/Q | 0.9894 | likely_pathogenic | 0.9854 | pathogenic | -1.2 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/R | 0.9888 | likely_pathogenic | 0.9844 | pathogenic | -1.397 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/S | 0.9353 | likely_pathogenic | 0.9119 | pathogenic | -2.103 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| D/T | 0.9863 | likely_pathogenic | 0.9774 | pathogenic | -1.766 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/V | 0.9831 | likely_pathogenic | 0.9747 | pathogenic | -0.438 | Destabilizing | None | None | None | None | D | 0.650392742 | None | None | N |
| D/W | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -1.563 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/Y | 0.9804 | likely_pathogenic | 0.9749 | pathogenic | -1.217 | Destabilizing | None | None | None | None | D | 0.650392742 | 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.