Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33896 | 101911;101912;101913 | chr2:178534929;178534928;178534927 | chr2:179399656;179399655;179399654 |
| N2AB | 32255 | 96988;96989;96990 | chr2:178534929;178534928;178534927 | chr2:179399656;179399655;179399654 |
| N2A | 31328 | 94207;94208;94209 | chr2:178534929;178534928;178534927 | chr2:179399656;179399655;179399654 |
| N2B | 24831 | 74716;74717;74718 | chr2:178534929;178534928;178534927 | chr2:179399656;179399655;179399654 |
| Novex-1 | 24956 | 75091;75092;75093 | chr2:178534929;178534928;178534927 | chr2:179399656;179399655;179399654 |
| Novex-2 | 25023 | 75292;75293;75294 | chr2:178534929;178534928;178534927 | chr2:179399656;179399655;179399654 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: TCA
- RefSeq wild type template codon: AGT
- Domain: Kinase-1
- Domain position: 84
- Q(SASA): 0.2839
- 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/L | rs376813674  |
-0.044 | None | N | None | 0.443 | None | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/L | rs376813674 |
-0.044 | None | N | None | 0.443 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/L | rs376813674 |
-0.044 | None | N | None | 0.443 | None | gnomAD-4.0.0 | 4.96493E-06 | None | None | None | None | N | None | 9.34305E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60174E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.3331 | likely_benign | 0.3028 | benign | -0.885 | Destabilizing | None | None | None | None | N | 0.458152701 | None | None | N |
| S/C | 0.5015 | ambiguous | 0.4594 | ambiguous | -0.632 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/D | 0.9663 | likely_pathogenic | 0.9631 | pathogenic | 0.021 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.9757 | likely_pathogenic | 0.9703 | pathogenic | 0.043 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.9538 | likely_pathogenic | 0.9407 | pathogenic | -0.969 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/G | 0.4839 | ambiguous | 0.4541 | ambiguous | -1.148 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.9433 | likely_pathogenic | 0.9293 | pathogenic | -1.492 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.9292 | likely_pathogenic | 0.9053 | pathogenic | -0.283 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.9945 | likely_pathogenic | 0.9925 | pathogenic | -0.524 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.7703 | likely_pathogenic | 0.7152 | pathogenic | -0.283 | Destabilizing | None | None | None | None | N | 0.499135319 | None | None | N |
| S/M | 0.8993 | likely_pathogenic | 0.8831 | pathogenic | -0.133 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.8739 | likely_pathogenic | 0.8634 | pathogenic | -0.504 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.9264 | likely_pathogenic | 0.9253 | pathogenic | -0.451 | Destabilizing | None | None | None | None | N | 0.44402861 | None | None | N |
| S/Q | 0.9681 | likely_pathogenic | 0.9631 | pathogenic | -0.631 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.9865 | likely_pathogenic | 0.9809 | pathogenic | -0.486 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.4276 | ambiguous | 0.4201 | ambiguous | -0.587 | Destabilizing | None | None | None | None | N | 0.458672776 | None | None | N |
| S/V | 0.8969 | likely_pathogenic | 0.8709 | pathogenic | -0.451 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.9545 | likely_pathogenic | 0.9426 | pathogenic | -0.883 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.9169 | likely_pathogenic | 0.8934 | pathogenic | -0.625 | 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.