Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34030 | 102313;102314;102315 | chr2:178534527;178534526;178534525 | chr2:179399254;179399253;179399252 |
| N2AB | 32389 | 97390;97391;97392 | chr2:178534527;178534526;178534525 | chr2:179399254;179399253;179399252 |
| N2A | 31462 | 94609;94610;94611 | chr2:178534527;178534526;178534525 | chr2:179399254;179399253;179399252 |
| N2B | 24965 | 75118;75119;75120 | chr2:178534527;178534526;178534525 | chr2:179399254;179399253;179399252 |
| Novex-1 | 25090 | 75493;75494;75495 | chr2:178534527;178534526;178534525 | chr2:179399254;179399253;179399252 |
| Novex-2 | 25157 | 75694;75695;75696 | chr2:178534527;178534526;178534525 | chr2:179399254;179399253;179399252 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCT
- RefSeq wild type template codon: CGA
- Domain: Kinase-1
- Domain position: 218
- Q(SASA): 0.1076
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | None | N | None | 0.343 | 0.404733080969 | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85816E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5864 | likely_pathogenic | 0.5304 | ambiguous | -0.349 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.8493 | likely_pathogenic | 0.7967 | pathogenic | -1.803 | Destabilizing | None | None | None | None | N | 0.461137944 | None | None | N |
| A/E | 0.7614 | likely_pathogenic | 0.6778 | pathogenic | -1.534 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.8644 | likely_pathogenic | 0.8225 | pathogenic | -0.297 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.249 | likely_benign | 0.2144 | benign | -1.0 | Destabilizing | None | None | None | None | N | 0.376943267 | None | None | N |
| A/H | 0.845 | likely_pathogenic | 0.8002 | pathogenic | -1.76 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.8633 | likely_pathogenic | 0.8425 | pathogenic | 1.023 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.8768 | likely_pathogenic | 0.8094 | pathogenic | -0.472 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.6686 | likely_pathogenic | 0.6247 | pathogenic | 1.023 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.7161 | likely_pathogenic | 0.675 | pathogenic | 0.691 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.7471 | likely_pathogenic | 0.7031 | pathogenic | -0.953 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.9174 | likely_pathogenic | 0.8773 | pathogenic | 0.575 | Stabilizing | None | None | None | None | N | 0.478048836 | None | None | N |
| A/Q | 0.712 | likely_pathogenic | 0.6516 | pathogenic | -0.6 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.7182 | likely_pathogenic | 0.6336 | pathogenic | -0.964 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1628 | likely_benign | 0.1597 | benign | -1.336 | Destabilizing | None | None | None | None | N | 0.460617869 | None | None | N |
| A/T | 0.3216 | likely_benign | 0.2996 | benign | -0.91 | Destabilizing | None | None | None | None | N | 0.470968148 | None | None | N |
| A/V | 0.566 | likely_pathogenic | 0.5308 | ambiguous | 0.575 | Stabilizing | None | None | None | None | N | 0.427276086 | None | None | N |
| A/W | 0.9638 | likely_pathogenic | 0.9493 | pathogenic | -1.202 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.8779 | likely_pathogenic | 0.8389 | pathogenic | -0.464 | 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.