Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33944 | 102055;102056;102057 | chr2:178534785;178534784;178534783 | chr2:179399512;179399511;179399510 |
| N2AB | 32303 | 97132;97133;97134 | chr2:178534785;178534784;178534783 | chr2:179399512;179399511;179399510 |
| N2A | 31376 | 94351;94352;94353 | chr2:178534785;178534784;178534783 | chr2:179399512;179399511;179399510 |
| N2B | 24879 | 74860;74861;74862 | chr2:178534785;178534784;178534783 | chr2:179399512;179399511;179399510 |
| Novex-1 | 25004 | 75235;75236;75237 | chr2:178534785;178534784;178534783 | chr2:179399512;179399511;179399510 |
| Novex-2 | 25071 | 75436;75437;75438 | chr2:178534785;178534784;178534783 | chr2:179399512;179399511;179399510 |
| 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: 132
- Q(SASA): 0.1422
- 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 | rs2154136201  |
None | None | D | None | 0.703 | 0.664245949781 | gnomAD-4.0.0 | 2.73857E-06 | None | None | None | None | N | None | 0 | 6.70931E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65651E-05 |
| N/Y | rs1690702377 |
None | None | D | None | 0.899 | 0.867596143592 | gnomAD-4.0.0 | 4.78086E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71641E-06 | 0 | 3.02389E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9528 | likely_pathogenic | 0.9257 | pathogenic | -1.369 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/C | 0.9001 | likely_pathogenic | 0.8702 | pathogenic | -0.784 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/D | 0.8636 | likely_pathogenic | 0.7918 | pathogenic | -1.935 | Destabilizing | None | None | None | None | D | 0.636078846 | None | None | N |
| N/E | 0.9696 | likely_pathogenic | 0.9453 | pathogenic | -1.686 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/F | 0.9846 | likely_pathogenic | 0.9728 | pathogenic | -0.689 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/G | 0.9486 | likely_pathogenic | 0.9162 | pathogenic | -1.746 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/H | 0.7236 | likely_pathogenic | 0.6299 | pathogenic | -1.342 | Destabilizing | None | None | None | None | D | 0.636482455 | None | None | N |
| N/I | 0.9378 | likely_pathogenic | 0.9111 | pathogenic | -0.348 | Destabilizing | None | None | None | None | D | 0.657609438 | None | None | N |
| N/K | 0.973 | likely_pathogenic | 0.9556 | pathogenic | -0.765 | Destabilizing | None | None | None | None | D | 0.648121048 | None | None | N |
| N/L | 0.9412 | likely_pathogenic | 0.9051 | pathogenic | -0.348 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/M | 0.938 | likely_pathogenic | 0.8961 | pathogenic | -0.322 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/P | 0.9962 | likely_pathogenic | 0.9926 | pathogenic | -0.665 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Q | 0.9576 | likely_pathogenic | 0.9318 | pathogenic | -1.072 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/R | 0.9682 | likely_pathogenic | 0.9444 | pathogenic | -1.094 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/S | 0.7206 | likely_pathogenic | 0.6532 | pathogenic | -1.613 | Destabilizing | None | None | None | None | D | 0.641186469 | None | None | N |
| N/T | 0.8502 | likely_pathogenic | 0.7708 | pathogenic | -1.206 | Destabilizing | None | None | None | None | D | 0.648121048 | None | None | N |
| N/V | 0.9408 | likely_pathogenic | 0.9159 | pathogenic | -0.665 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/W | 0.993 | likely_pathogenic | 0.9859 | pathogenic | -0.737 | Destabilizing | None | None | None | None | None | None | None | None | N |
| N/Y | 0.7719 | likely_pathogenic | 0.6551 | pathogenic | -0.414 | Destabilizing | None | None | None | None | D | 0.673860964 | 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.