Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34042 | 102349;102350;102351 | chr2:178534491;178534490;178534489 | chr2:179399218;179399217;179399216 |
| N2AB | 32401 | 97426;97427;97428 | chr2:178534491;178534490;178534489 | chr2:179399218;179399217;179399216 |
| N2A | 31474 | 94645;94646;94647 | chr2:178534491;178534490;178534489 | chr2:179399218;179399217;179399216 |
| N2B | 24977 | 75154;75155;75156 | chr2:178534491;178534490;178534489 | chr2:179399218;179399217;179399216 |
| Novex-1 | 25102 | 75529;75530;75531 | chr2:178534491;178534490;178534489 | chr2:179399218;179399217;179399216 |
| Novex-2 | 25169 | 75730;75731;75732 | chr2:178534491;178534490;178534489 | chr2:179399218;179399217;179399216 |
| 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: 230
- Q(SASA): 0.117
- 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/L | rs745822255  |
-0.687 | None | N | None | 0.075 | 0.278968121808 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| I/L | rs745822255 |
-0.687 | None | N | None | 0.075 | 0.278968121808 | gnomAD-4.0.0 | 7.52681E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.27527E-04 | 0 |
| I/T | rs373173599 |
-2.188 | None | N | None | 0.299 | None | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/T | rs373173599 |
-2.188 | None | N | None | 0.299 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs373173599 |
-2.188 | None | N | None | 0.299 | None | gnomAD-4.0.0 | 8.05622E-06 | None | None | None | None | N | None | 1.06758E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47588E-07 | 2.19568E-05 | 3.20215E-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 | 0.6803 | likely_pathogenic | 0.5843 | pathogenic | -1.794 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.8831 | likely_pathogenic | 0.8608 | pathogenic | -1.119 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9569 | likely_pathogenic | 0.9413 | pathogenic | -0.948 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9137 | likely_pathogenic | 0.8935 | pathogenic | -0.898 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.477 | ambiguous | 0.4396 | ambiguous | -1.151 | Destabilizing | None | None | None | None | N | 0.464233311 | None | None | N |
| I/G | 0.9351 | likely_pathogenic | 0.9154 | pathogenic | -2.17 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9186 | likely_pathogenic | 0.8975 | pathogenic | -1.31 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.8621 | likely_pathogenic | 0.8313 | pathogenic | -1.2 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.2667 | likely_benign | 0.2487 | benign | -0.808 | Destabilizing | None | None | None | None | N | 0.38567374 | None | None | N |
| I/M | 0.2351 | likely_benign | 0.2137 | benign | -0.683 | Destabilizing | None | None | None | None | N | 0.481722994 | None | None | N |
| I/N | 0.6536 | likely_pathogenic | 0.5679 | pathogenic | -1.039 | Destabilizing | None | None | None | None | N | 0.477914654 | None | None | N |
| I/P | 0.9744 | likely_pathogenic | 0.9768 | pathogenic | -1.106 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.8868 | likely_pathogenic | 0.8651 | pathogenic | -1.127 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.8152 | likely_pathogenic | 0.777 | pathogenic | -0.694 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.7317 | likely_pathogenic | 0.6525 | pathogenic | -1.745 | Destabilizing | None | None | None | None | N | 0.506581366 | None | None | N |
| I/T | 0.6164 | likely_pathogenic | 0.4818 | ambiguous | -1.559 | Destabilizing | None | None | None | None | N | 0.478221329 | None | None | N |
| I/V | 0.1679 | likely_benign | 0.16 | benign | -1.106 | Destabilizing | None | None | None | None | N | 0.395160015 | None | None | N |
| I/W | 0.9715 | likely_pathogenic | 0.9716 | pathogenic | -1.224 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.7802 | likely_pathogenic | 0.7462 | pathogenic | -1.011 | 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.