Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34028 | 102307;102308;102309 | chr2:178534533;178534532;178534531 | chr2:179399260;179399259;179399258 |
| N2AB | 32387 | 97384;97385;97386 | chr2:178534533;178534532;178534531 | chr2:179399260;179399259;179399258 |
| N2A | 31460 | 94603;94604;94605 | chr2:178534533;178534532;178534531 | chr2:179399260;179399259;179399258 |
| N2B | 24963 | 75112;75113;75114 | chr2:178534533;178534532;178534531 | chr2:179399260;179399259;179399258 |
| Novex-1 | 25088 | 75487;75488;75489 | chr2:178534533;178534532;178534531 | chr2:179399260;179399259;179399258 |
| Novex-2 | 25155 | 75688;75689;75690 | chr2:178534533;178534532;178534531 | chr2:179399260;179399259;179399258 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: M
- RefSeq wild type transcript codon: ATG
- RefSeq wild type template codon: TAC
- Domain: Kinase-1
- Domain position: 216
- Q(SASA): 0.1975
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/L | None | None | None | N | None | 0.132 | 0.353548585375 | gnomAD-4.0.0 | 1.20045E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31263E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.388 | ambiguous | 0.418 | ambiguous | -2.973 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/C | 0.6554 | likely_pathogenic | 0.6238 | pathogenic | -1.852 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/D | 0.8931 | likely_pathogenic | 0.9188 | pathogenic | -2.02 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/E | 0.4528 | ambiguous | 0.4998 | ambiguous | -1.942 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/F | 0.577 | likely_pathogenic | 0.6029 | pathogenic | -1.731 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/G | 0.5981 | likely_pathogenic | 0.6322 | pathogenic | -3.327 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/H | 0.6181 | likely_pathogenic | 0.6617 | pathogenic | -2.45 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/I | 0.4483 | ambiguous | 0.4693 | ambiguous | -1.987 | Destabilizing | None | None | None | None | N | 0.451112951 | None | None | N |
| M/K | 0.2132 | likely_benign | 0.2175 | benign | -1.77 | Destabilizing | None | None | None | None | N | 0.41551751 | None | None | N |
| M/L | 0.1631 | likely_benign | 0.1734 | benign | -1.987 | Destabilizing | None | None | None | None | N | 0.424403566 | None | None | N |
| M/N | 0.5796 | likely_pathogenic | 0.6189 | pathogenic | -1.668 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/P | 0.9735 | likely_pathogenic | 0.9791 | pathogenic | -2.298 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Q | 0.1892 | likely_benign | 0.1934 | benign | -1.701 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/R | 0.2121 | likely_benign | 0.2271 | benign | -1.239 | Destabilizing | None | None | None | None | N | 0.448342005 | None | None | N |
| M/S | 0.4115 | ambiguous | 0.4207 | ambiguous | -2.263 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/T | 0.2019 | likely_benign | 0.2062 | benign | -2.09 | Highly Destabilizing | None | None | None | None | N | 0.464042176 | None | None | N |
| M/V | 0.1351 | likely_benign | 0.1446 | benign | -2.298 | Highly Destabilizing | None | None | None | None | N | 0.453729182 | None | None | N |
| M/W | 0.7794 | likely_pathogenic | 0.806 | pathogenic | -1.718 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Y | 0.7512 | likely_pathogenic | 0.764 | pathogenic | -1.893 | 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.