Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34020 | 102283;102284;102285 | chr2:178534557;178534556;178534555 | chr2:179399284;179399283;179399282 |
| N2AB | 32379 | 97360;97361;97362 | chr2:178534557;178534556;178534555 | chr2:179399284;179399283;179399282 |
| N2A | 31452 | 94579;94580;94581 | chr2:178534557;178534556;178534555 | chr2:179399284;179399283;179399282 |
| N2B | 24955 | 75088;75089;75090 | chr2:178534557;178534556;178534555 | chr2:179399284;179399283;179399282 |
| Novex-1 | 25080 | 75463;75464;75465 | chr2:178534557;178534556;178534555 | chr2:179399284;179399283;179399282 |
| Novex-2 | 25147 | 75664;75665;75666 | chr2:178534557;178534556;178534555 | chr2:179399284;179399283;179399282 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: N
- RefSeq wild type transcript codon: AAC
- RefSeq wild type template codon: TTG
- Domain: Kinase-1
- Domain position: 208
- Q(SASA): 0.4453
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | None | None | None | N | None | 0.23 | 0.516050471323 | gnomAD-4.0.0 | 1.59122E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43295E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.6797 | likely_pathogenic | 0.6932 | pathogenic | -0.36 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.7311 | likely_pathogenic | 0.7435 | pathogenic | 0.347 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.4054 | ambiguous | 0.4337 | ambiguous | 0.187 | Stabilizing | None | None | None | None | N | 0.399857412 | None | None | N |
| N/E | 0.7615 | likely_pathogenic | 0.766 | pathogenic | 0.175 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.9666 | likely_pathogenic | 0.9688 | pathogenic | -0.626 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.6219 | likely_pathogenic | 0.6313 | pathogenic | -0.569 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.3474 | ambiguous | 0.3951 | ambiguous | -0.573 | Destabilizing | None | None | None | None | N | 0.461964663 | None | None | N |
| N/I | 0.8469 | likely_pathogenic | 0.8456 | pathogenic | 0.108 | Stabilizing | None | None | None | None | N | 0.446323207 | None | None | N |
| N/K | 0.7948 | likely_pathogenic | 0.7985 | pathogenic | 0.054 | Stabilizing | None | None | None | None | N | 0.440741242 | None | None | N |
| N/L | 0.8311 | likely_pathogenic | 0.8305 | pathogenic | 0.108 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.8804 | likely_pathogenic | 0.8844 | pathogenic | 0.39 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.7123 | likely_pathogenic | 0.685 | pathogenic | -0.02 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.7051 | likely_pathogenic | 0.7173 | pathogenic | -0.347 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.7724 | likely_pathogenic | 0.748 | pathogenic | 0.047 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.1521 | likely_benign | 0.1848 | benign | -0.197 | Destabilizing | None | None | None | None | N | 0.445493701 | None | None | N |
| N/T | 0.4253 | ambiguous | 0.4394 | ambiguous | -0.052 | Destabilizing | None | None | None | None | N | 0.401281564 | None | None | N |
| N/V | 0.79 | likely_pathogenic | 0.7928 | pathogenic | -0.02 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.9793 | likely_pathogenic | 0.9749 | pathogenic | -0.593 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.6417 | likely_pathogenic | 0.6648 | pathogenic | -0.332 | Destabilizing | None | None | None | None | N | 0.459252432 | 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.