Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34043 | 102352;102353;102354 | chr2:178534488;178534487;178534486 | chr2:179399215;179399214;179399213 |
| N2AB | 32402 | 97429;97430;97431 | chr2:178534488;178534487;178534486 | chr2:179399215;179399214;179399213 |
| N2A | 31475 | 94648;94649;94650 | chr2:178534488;178534487;178534486 | chr2:179399215;179399214;179399213 |
| N2B | 24978 | 75157;75158;75159 | chr2:178534488;178534487;178534486 | chr2:179399215;179399214;179399213 |
| Novex-1 | 25103 | 75532;75533;75534 | chr2:178534488;178534487;178534486 | chr2:179399215;179399214;179399213 |
| Novex-2 | 25170 | 75733;75734;75735 | chr2:178534488;178534487;178534486 | chr2:179399215;179399214;179399213 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: AGC
- RefSeq wild type template codon: TCG
- Domain: Kinase-1
- Domain position: 231
- Q(SASA): 0.1443
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | None | N | None | 0.401 | 0.345859378078 | gnomAD-4.0.0 | 4.10558E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39674E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2548 | likely_benign | 0.2372 | benign | -0.618 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/C | 0.3316 | likely_benign | 0.3086 | benign | -0.364 | Destabilizing | None | None | None | None | N | 0.502533957 | None | None | N |
| S/D | 0.9175 | likely_pathogenic | 0.9042 | pathogenic | 0.011 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.9441 | likely_pathogenic | 0.934 | pathogenic | 0.031 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.9205 | likely_pathogenic | 0.8977 | pathogenic | -0.802 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.3323 | likely_benign | 0.3035 | benign | -0.884 | Destabilizing | None | None | None | None | N | 0.494429655 | None | None | N |
| S/H | 0.8846 | likely_pathogenic | 0.8704 | pathogenic | -1.279 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.8796 | likely_pathogenic | 0.8562 | pathogenic | -0.018 | Destabilizing | None | None | None | None | D | 0.524904173 | None | None | N |
| S/K | 0.9869 | likely_pathogenic | 0.9814 | pathogenic | -0.54 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.6499 | likely_pathogenic | 0.5994 | pathogenic | -0.018 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.7854 | likely_pathogenic | 0.7664 | pathogenic | 0.079 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.6989 | likely_pathogenic | 0.6699 | pathogenic | -0.562 | Destabilizing | None | None | None | None | N | 0.487174726 | None | None | N |
| S/P | 0.7778 | likely_pathogenic | 0.7834 | pathogenic | -0.183 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Q | 0.9255 | likely_pathogenic | 0.9092 | pathogenic | -0.596 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.9759 | likely_pathogenic | 0.9642 | pathogenic | -0.507 | Destabilizing | None | None | None | None | N | 0.494936634 | None | None | N |
| S/T | 0.2348 | likely_benign | 0.236 | benign | -0.545 | Destabilizing | None | None | None | None | N | 0.492713566 | None | None | N |
| S/V | 0.8037 | likely_pathogenic | 0.772 | pathogenic | -0.183 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.9438 | likely_pathogenic | 0.9313 | pathogenic | -0.846 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.8606 | likely_pathogenic | 0.8195 | pathogenic | -0.541 | 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.