Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34060 | 102403;102404;102405 | chr2:178534437;178534436;178534435 | chr2:179399164;179399163;179399162 |
| N2AB | 32419 | 97480;97481;97482 | chr2:178534437;178534436;178534435 | chr2:179399164;179399163;179399162 |
| N2A | 31492 | 94699;94700;94701 | chr2:178534437;178534436;178534435 | chr2:179399164;179399163;179399162 |
| N2B | 24995 | 75208;75209;75210 | chr2:178534437;178534436;178534435 | chr2:179399164;179399163;179399162 |
| Novex-1 | 25120 | 75583;75584;75585 | chr2:178534437;178534436;178534435 | chr2:179399164;179399163;179399162 |
| Novex-2 | 25187 | 75784;75785;75786 | chr2:178534437;178534436;178534435 | chr2:179399164;179399163;179399162 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: S
- RefSeq wild type transcript codon: TCT
- RefSeq wild type template codon: AGA
- Domain: Kinase-1
- Domain position: 248
- Q(SASA): 0.3919
- 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/P | rs373945220  |
-0.054 | None | N | None | 0.25 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| S/P | rs373945220 |
-0.054 | None | N | None | 0.25 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 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 | 0.1084 | likely_benign | 0.1005 | benign | -0.366 | Destabilizing | None | None | None | None | N | 0.415384224 | None | None | N |
| S/C | 0.1812 | likely_benign | 0.1664 | benign | -0.366 | Destabilizing | None | None | None | None | N | 0.44692064 | None | None | N |
| S/D | 0.5236 | ambiguous | 0.4456 | ambiguous | 0.305 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/E | 0.5539 | ambiguous | 0.4801 | ambiguous | 0.214 | Stabilizing | None | None | None | None | None | None | None | None | N |
| S/F | 0.3731 | ambiguous | 0.3066 | benign | -0.909 | Destabilizing | None | None | None | None | N | 0.465679759 | None | None | N |
| S/G | 0.1357 | likely_benign | 0.13 | benign | -0.478 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/H | 0.3956 | ambiguous | 0.3533 | ambiguous | -0.916 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/I | 0.3117 | likely_benign | 0.2694 | benign | -0.202 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/K | 0.7207 | likely_pathogenic | 0.6226 | pathogenic | -0.443 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/L | 0.1898 | likely_benign | 0.1627 | benign | -0.202 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/M | 0.3108 | likely_benign | 0.2669 | benign | -0.033 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/N | 0.1794 | likely_benign | 0.17 | benign | -0.198 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/P | 0.5087 | ambiguous | 0.4374 | ambiguous | -0.228 | Destabilizing | None | None | None | None | N | 0.513548277 | None | None | N |
| S/Q | 0.4999 | ambiguous | 0.4545 | ambiguous | -0.445 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/R | 0.66 | likely_pathogenic | 0.5819 | pathogenic | -0.236 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/T | 0.1467 | likely_benign | 0.138 | benign | -0.339 | Destabilizing | None | None | None | None | N | 0.426852012 | None | None | N |
| S/V | 0.2915 | likely_benign | 0.2506 | benign | -0.228 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/W | 0.4454 | ambiguous | 0.3946 | ambiguous | -0.894 | Destabilizing | None | None | None | None | None | None | None | None | N |
| S/Y | 0.2486 | likely_benign | 0.1958 | benign | -0.618 | Destabilizing | None | None | None | None | N | 0.461466018 | 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.