Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34117 | 102574;102575;102576 | chr2:178534266;178534265;178534264 | chr2:179398993;179398992;179398991 |
| N2AB | 32476 | 97651;97652;97653 | chr2:178534266;178534265;178534264 | chr2:179398993;179398992;179398991 |
| N2A | 31549 | 94870;94871;94872 | chr2:178534266;178534265;178534264 | chr2:179398993;179398992;179398991 |
| N2B | 25052 | 75379;75380;75381 | chr2:178534266;178534265;178534264 | chr2:179398993;179398992;179398991 |
| Novex-1 | 25177 | 75754;75755;75756 | chr2:178534266;178534265;178534264 | chr2:179398993;179398992;179398991 |
| Novex-2 | 25244 | 75955;75956;75957 | chr2:178534266;178534265;178534264 | chr2:179398993;179398992;179398991 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATT
- RefSeq wild type template codon: TAA
- Domain: Kinase-1
- Domain position: 305
- Q(SASA): 0.1466
- 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/V | None | None | None | N | None | 0.065 | 0.333906830038 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85776E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8399 | likely_pathogenic | 0.78 | pathogenic | -1.584 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9453 | likely_pathogenic | 0.9071 | pathogenic | -1.102 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9884 | likely_pathogenic | 0.9722 | pathogenic | -0.586 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9657 | likely_pathogenic | 0.9321 | pathogenic | -0.509 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.4121 | ambiguous | 0.285 | benign | -0.834 | Destabilizing | None | None | None | None | N | 0.4294496 | None | None | N |
| I/G | 0.9649 | likely_pathogenic | 0.9343 | pathogenic | -1.964 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9531 | likely_pathogenic | 0.9024 | pathogenic | -0.965 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9188 | likely_pathogenic | 0.862 | pathogenic | -1.001 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.22 | likely_benign | 0.1979 | benign | -0.588 | Destabilizing | None | None | None | None | N | 0.445261627 | None | None | N |
| I/M | 0.2657 | likely_benign | 0.2446 | benign | -0.644 | Destabilizing | None | None | None | None | N | 0.448382077 | None | None | N |
| I/N | 0.8842 | likely_pathogenic | 0.8063 | pathogenic | -1.0 | Destabilizing | None | None | None | None | N | 0.448902152 | None | None | N |
| I/P | 0.948 | likely_pathogenic | 0.9135 | pathogenic | -0.889 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9165 | likely_pathogenic | 0.861 | pathogenic | -1.034 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.8705 | likely_pathogenic | 0.7799 | pathogenic | -0.547 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.8454 | likely_pathogenic | 0.7491 | pathogenic | -1.744 | Destabilizing | None | None | None | None | N | 0.448035361 | None | None | N |
| I/T | 0.836 | likely_pathogenic | 0.7702 | pathogenic | -1.53 | Destabilizing | None | None | None | None | N | 0.448035361 | None | None | N |
| I/V | 0.1533 | likely_benign | 0.1636 | benign | -0.889 | Destabilizing | None | None | None | None | N | 0.446821852 | None | None | N |
| I/W | 0.9478 | likely_pathogenic | 0.8895 | pathogenic | -0.904 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.8581 | likely_pathogenic | 0.7089 | pathogenic | -0.668 | 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.