Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33965 | 102118;102119;102120 | chr2:178534722;178534721;178534720 | chr2:179399449;179399448;179399447 |
| N2AB | 32324 | 97195;97196;97197 | chr2:178534722;178534721;178534720 | chr2:179399449;179399448;179399447 |
| N2A | 31397 | 94414;94415;94416 | chr2:178534722;178534721;178534720 | chr2:179399449;179399448;179399447 |
| N2B | 24900 | 74923;74924;74925 | chr2:178534722;178534721;178534720 | chr2:179399449;179399448;179399447 |
| Novex-1 | 25025 | 75298;75299;75300 | chr2:178534722;178534721;178534720 | chr2:179399449;179399448;179399447 |
| Novex-2 | 25092 | 75499;75500;75501 | chr2:178534722;178534721;178534720 | chr2:179399449;179399448;179399447 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Q
- RefSeq wild type transcript codon: CAG
- RefSeq wild type template codon: GTC
- Domain: Kinase-1
- Domain position: 153
- Q(SASA): 0.3773
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | None | N | None | 0.122 | 0.198526703765 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85824E-06 | 0 | 0 |
| Q/R | None | None | None | N | None | 0.157 | 0.264547087235 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.35 | ambiguous | 0.3377 | benign | -0.482 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.8356 | likely_pathogenic | 0.8434 | pathogenic | -0.082 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.7036 | likely_pathogenic | 0.6754 | pathogenic | -0.138 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.1564 | likely_benign | 0.144 | benign | -0.051 | Destabilizing | None | None | None | None | N | 0.452806462 | None | None | N |
| Q/F | 0.76 | likely_pathogenic | 0.7597 | pathogenic | -0.257 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.5846 | likely_pathogenic | 0.5813 | pathogenic | -0.802 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.3913 | ambiguous | 0.4335 | ambiguous | -0.426 | Destabilizing | None | None | None | None | N | 0.454828047 | None | None | N |
| Q/I | 0.4673 | ambiguous | 0.4196 | ambiguous | 0.319 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.2281 | likely_benign | 0.1978 | benign | -0.203 | Destabilizing | None | None | None | None | N | 0.417133664 | None | None | N |
| Q/L | 0.2172 | likely_benign | 0.2119 | benign | 0.319 | Stabilizing | None | None | None | None | N | 0.447072568 | None | None | N |
| Q/M | 0.4312 | ambiguous | 0.4121 | ambiguous | 0.424 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.4513 | ambiguous | 0.4376 | ambiguous | -0.788 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.29 | likely_benign | 0.3032 | benign | 0.082 | Stabilizing | None | None | None | None | N | 0.488671262 | None | None | N |
| Q/R | 0.2723 | likely_benign | 0.254 | benign | -0.083 | Destabilizing | None | None | None | None | N | 0.420368757 | None | None | N |
| Q/S | 0.3824 | ambiguous | 0.3598 | ambiguous | -0.863 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.3435 | ambiguous | 0.3067 | benign | -0.583 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.3553 | ambiguous | 0.3233 | benign | 0.082 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.8231 | likely_pathogenic | 0.8263 | pathogenic | -0.176 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.6499 | likely_pathogenic | 0.652 | pathogenic | 0.061 | Stabilizing | 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.