Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33958 | 102097;102098;102099 | chr2:178534743;178534742;178534741 | chr2:179399470;179399469;179399468 |
| N2AB | 32317 | 97174;97175;97176 | chr2:178534743;178534742;178534741 | chr2:179399470;179399469;179399468 |
| N2A | 31390 | 94393;94394;94395 | chr2:178534743;178534742;178534741 | chr2:179399470;179399469;179399468 |
| N2B | 24893 | 74902;74903;74904 | chr2:178534743;178534742;178534741 | chr2:179399470;179399469;179399468 |
| Novex-1 | 25018 | 75277;75278;75279 | chr2:178534743;178534742;178534741 | chr2:179399470;179399469;179399468 |
| Novex-2 | 25085 | 75478;75479;75480 | chr2:178534743;178534742;178534741 | chr2:179399470;179399469;179399468 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATA
- RefSeq wild type template codon: TAT
- Domain: Kinase-1
- Domain position: 146
- Q(SASA): 0.123
- 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/T | rs760516584  |
-3.127 | None | N | None | 0.213 | None | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 2.66E-05 | 0 |
| I/T | rs760516584 |
-3.127 | None | N | None | 0.213 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| I/T | rs760516584 |
-3.127 | None | N | None | 0.213 | None | gnomAD-4.0.0 | 1.23937E-05 | None | None | None | None | N | None | 4.00502E-05 | 0 | None | 0 | 0 | None | 3.12549E-05 | 0 | 9.32357E-06 | 2.19563E-05 | 3.20236E-05 |
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 | 0.6249 | likely_pathogenic | 0.683 | pathogenic | -2.498 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9037 | likely_pathogenic | 0.9209 | pathogenic | -1.645 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9838 | likely_pathogenic | 0.9871 | pathogenic | -3.105 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9388 | likely_pathogenic | 0.9552 | pathogenic | -2.85 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.5792 | likely_pathogenic | 0.6315 | pathogenic | -1.436 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/G | 0.9512 | likely_pathogenic | 0.9631 | pathogenic | -3.054 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9463 | likely_pathogenic | 0.9604 | pathogenic | -2.564 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.883 | likely_pathogenic | 0.9119 | pathogenic | -2.109 | Highly Destabilizing | None | None | None | None | N | 0.492878583 | None | None | N |
| I/L | 0.2682 | likely_benign | 0.3041 | benign | -0.871 | Destabilizing | None | None | None | None | N | 0.493073351 | None | None | N |
| I/M | 0.2264 | likely_benign | 0.2568 | benign | -0.764 | Destabilizing | None | None | None | None | N | 0.470001388 | None | None | N |
| I/N | 0.8614 | likely_pathogenic | 0.8851 | pathogenic | -2.577 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/P | 0.976 | likely_pathogenic | 0.9844 | pathogenic | -1.397 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.8867 | likely_pathogenic | 0.9176 | pathogenic | -2.385 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.8151 | likely_pathogenic | 0.8514 | pathogenic | -1.85 | Destabilizing | None | None | None | None | N | 0.474774328 | None | None | N |
| I/S | 0.7165 | likely_pathogenic | 0.7633 | pathogenic | -3.191 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/T | 0.3466 | ambiguous | 0.4421 | ambiguous | -2.793 | Highly Destabilizing | None | None | None | None | N | 0.451706731 | None | None | N |
| I/V | 0.1412 | likely_benign | 0.1766 | benign | -1.397 | Destabilizing | None | None | None | None | N | 0.446647628 | None | None | N |
| I/W | 0.9683 | likely_pathogenic | 0.9761 | pathogenic | -1.913 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.9201 | likely_pathogenic | 0.9269 | pathogenic | -1.591 | 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.