Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34085 | 102478;102479;102480 | chr2:178534362;178534361;178534360 | chr2:179399089;179399088;179399087 |
| N2AB | 32444 | 97555;97556;97557 | chr2:178534362;178534361;178534360 | chr2:179399089;179399088;179399087 |
| N2A | 31517 | 94774;94775;94776 | chr2:178534362;178534361;178534360 | chr2:179399089;179399088;179399087 |
| N2B | 25020 | 75283;75284;75285 | chr2:178534362;178534361;178534360 | chr2:179399089;179399088;179399087 |
| Novex-1 | 25145 | 75658;75659;75660 | chr2:178534362;178534361;178534360 | chr2:179399089;179399088;179399087 |
| Novex-2 | 25212 | 75859;75860;75861 | chr2:178534362;178534361;178534360 | chr2:179399089;179399088;179399087 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATC
- RefSeq wild type template codon: TAG
- Domain: Kinase-1
- Domain position: 273
- Q(SASA): 0.1161
- 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/M | rs1188731609  |
-0.812 | None | N | None | 0.196 | 0.400468435593 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/M | rs1188731609 |
-0.812 | None | N | None | 0.196 | 0.400468435593 | gnomAD-4.0.0 | 6.85299E-07 | None | None | None | None | N | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | None | None | None | N | None | 0.494 | 0.54626238531 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8412 | likely_pathogenic | 0.8386 | pathogenic | -2.05 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9347 | likely_pathogenic | 0.934 | pathogenic | -1.111 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.9819 | likely_pathogenic | 0.9819 | pathogenic | -1.595 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9356 | likely_pathogenic | 0.931 | pathogenic | -1.552 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.4798 | ambiguous | 0.4964 | ambiguous | -1.396 | Destabilizing | None | None | None | None | N | 0.439316224 | None | None | N |
| I/G | 0.9648 | likely_pathogenic | 0.9637 | pathogenic | -2.428 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9249 | likely_pathogenic | 0.9294 | pathogenic | -1.663 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.8453 | likely_pathogenic | 0.8397 | pathogenic | -1.535 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.2451 | likely_benign | 0.2431 | benign | -1.047 | Destabilizing | None | None | None | None | N | 0.437409282 | None | None | N |
| I/M | 0.2518 | likely_benign | 0.248 | benign | -0.718 | Destabilizing | None | None | None | None | N | 0.439489582 | None | None | N |
| I/N | 0.8213 | likely_pathogenic | 0.8166 | pathogenic | -1.355 | Destabilizing | None | None | None | None | N | 0.439316224 | None | None | N |
| I/P | 0.9743 | likely_pathogenic | 0.9835 | pathogenic | -1.353 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.8533 | likely_pathogenic | 0.8558 | pathogenic | -1.486 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.7781 | likely_pathogenic | 0.7808 | pathogenic | -0.942 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.8073 | likely_pathogenic | 0.8094 | pathogenic | -1.981 | Destabilizing | None | None | None | None | N | 0.438449432 | None | None | N |
| I/T | 0.7626 | likely_pathogenic | 0.7635 | pathogenic | -1.82 | Destabilizing | None | None | None | None | N | 0.438622791 | None | None | N |
| I/V | 0.2352 | likely_benign | 0.2382 | benign | -1.353 | Destabilizing | None | None | None | None | N | 0.438796149 | None | None | N |
| I/W | 0.9584 | likely_pathogenic | 0.9667 | pathogenic | -1.533 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.8654 | likely_pathogenic | 0.8561 | pathogenic | -1.328 | 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.