Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34026 | 102301;102302;102303 | chr2:178534539;178534538;178534537 | chr2:179399266;179399265;179399264 |
| N2AB | 32385 | 97378;97379;97380 | chr2:178534539;178534538;178534537 | chr2:179399266;179399265;179399264 |
| N2A | 31458 | 94597;94598;94599 | chr2:178534539;178534538;178534537 | chr2:179399266;179399265;179399264 |
| N2B | 24961 | 75106;75107;75108 | chr2:178534539;178534538;178534537 | chr2:179399266;179399265;179399264 |
| Novex-1 | 25086 | 75481;75482;75483 | chr2:178534539;178534538;178534537 | chr2:179399266;179399265;179399264 |
| Novex-2 | 25153 | 75682;75683;75684 | chr2:178534539;178534538;178534537 | chr2:179399266;179399265;179399264 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: N
- RefSeq wild type transcript codon: AAT
- RefSeq wild type template codon: TTA
- Domain: Kinase-1
- Domain position: 214
- Q(SASA): 0.1798
- 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/S | rs759826620  |
-1.316 | None | N | None | 0.185 | 0.159798565429 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| N/S | rs759826620 |
-1.316 | None | N | None | 0.185 | 0.159798565429 | gnomAD-4.0.0 | 1.3684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79893E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.578 | likely_pathogenic | 0.5801 | pathogenic | -0.976 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.686 | likely_pathogenic | 0.633 | pathogenic | -0.708 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.4055 | ambiguous | 0.4047 | ambiguous | -2.287 | Highly Destabilizing | None | None | None | None | D | 0.52766958 | None | None | N |
| N/E | 0.7149 | likely_pathogenic | 0.714 | pathogenic | -2.078 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.9162 | likely_pathogenic | 0.902 | pathogenic | -0.786 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.5761 | likely_pathogenic | 0.5882 | pathogenic | -1.308 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.2438 | likely_benign | 0.1994 | benign | -1.043 | Destabilizing | None | None | None | None | N | 0.486489251 | None | None | N |
| N/I | 0.7568 | likely_pathogenic | 0.7226 | pathogenic | -0.11 | Destabilizing | None | None | None | None | D | 0.530344526 | None | None | N |
| N/K | 0.6068 | likely_pathogenic | 0.5517 | ambiguous | -0.405 | Destabilizing | None | None | None | None | N | 0.44622442 | None | None | N |
| N/L | 0.6996 | likely_pathogenic | 0.6695 | pathogenic | -0.11 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.7392 | likely_pathogenic | 0.7079 | pathogenic | 0.03 | Stabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.9806 | likely_pathogenic | 0.9835 | pathogenic | -0.373 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.6323 | likely_pathogenic | 0.6066 | pathogenic | -1.132 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.605 | likely_pathogenic | 0.5486 | ambiguous | -0.55 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.2686 | likely_benign | 0.2824 | benign | -1.297 | Destabilizing | None | None | None | None | N | 0.495018444 | None | None | N |
| N/T | 0.4038 | ambiguous | 0.3908 | ambiguous | -0.935 | Destabilizing | None | None | None | None | N | 0.485982272 | None | None | N |
| N/V | 0.7472 | likely_pathogenic | 0.7338 | pathogenic | -0.373 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.9486 | likely_pathogenic | 0.935 | pathogenic | -0.868 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.4198 | ambiguous | 0.3517 | ambiguous | -0.434 | Destabilizing | None | None | None | None | N | 0.48699623 | 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.