Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34052 | 102379;102380;102381 | chr2:178534461;178534460;178534459 | chr2:179399188;179399187;179399186 |
| N2AB | 32411 | 97456;97457;97458 | chr2:178534461;178534460;178534459 | chr2:179399188;179399187;179399186 |
| N2A | 31484 | 94675;94676;94677 | chr2:178534461;178534460;178534459 | chr2:179399188;179399187;179399186 |
| N2B | 24987 | 75184;75185;75186 | chr2:178534461;178534460;178534459 | chr2:179399188;179399187;179399186 |
| Novex-1 | 25112 | 75559;75560;75561 | chr2:178534461;178534460;178534459 | chr2:179399188;179399187;179399186 |
| Novex-2 | 25179 | 75760;75761;75762 | chr2:178534461;178534460;178534459 | chr2:179399188;179399187;179399186 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: CGG
- RefSeq wild type template codon: GCC
- Domain: Kinase-1
- Domain position: 240
- Q(SASA): 0.3466
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs756924372  |
-1.573 | None | N | None | 0.423 | 0.50024110626 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/G | rs756924372 |
-1.573 | None | N | None | 0.423 | 0.50024110626 | gnomAD-4.0.0 | 1.36891E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31879E-05 | 0 |
| R/Q | rs369245991 |
-0.439 | None | N | None | 0.447 | None | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 5.79E-05 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 4.44E-05 | 0 |
| R/Q | rs369245991 |
-0.439 | None | N | None | 0.447 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| R/Q | rs369245991 |
-0.439 | None | N | None | 0.447 | None | gnomAD-4.0.0 | 3.90516E-05 | None | None | None | None | N | None | 4.0032E-05 | 3.33311E-05 | None | 0 | 0 | None | 0 | 4.93097E-04 | 4.15318E-05 | 5.48968E-05 | 1.60092E-05 |
| R/W | rs756924372 |
None | None | N | None | 0.475 | 0.585836789056 | gnomAD-4.0.0 | 4.10673E-06 | None | None | None | None | N | None | 2.98793E-05 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 3.59781E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8733 | likely_pathogenic | 0.8317 | pathogenic | -0.823 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.5795 | likely_pathogenic | 0.5369 | ambiguous | -0.59 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.9327 | likely_pathogenic | 0.9119 | pathogenic | -0.239 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.7766 | likely_pathogenic | 0.7353 | pathogenic | -0.072 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.944 | likely_pathogenic | 0.9199 | pathogenic | -0.434 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.762 | likely_pathogenic | 0.702 | pathogenic | -1.192 | Destabilizing | None | None | None | None | N | 0.476472756 | None | None | N |
| R/H | 0.3162 | likely_benign | 0.2843 | benign | -1.68 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.8325 | likely_pathogenic | 0.7871 | pathogenic | 0.193 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/K | 0.3411 | ambiguous | 0.3181 | benign | -0.767 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/L | 0.7445 | likely_pathogenic | 0.6837 | pathogenic | 0.193 | Stabilizing | None | None | None | None | N | 0.51676194 | None | None | N |
| R/M | 0.8208 | likely_pathogenic | 0.7752 | pathogenic | -0.162 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.8942 | likely_pathogenic | 0.8616 | pathogenic | -0.392 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.9875 | likely_pathogenic | 0.9834 | pathogenic | -0.125 | Destabilizing | None | None | None | None | N | 0.514103387 | None | None | N |
| R/Q | 0.3098 | likely_benign | 0.286 | benign | -0.397 | Destabilizing | None | None | None | None | N | 0.448382077 | None | None | N |
| R/S | 0.879 | likely_pathogenic | 0.8414 | pathogenic | -1.068 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/T | 0.7936 | likely_pathogenic | 0.7301 | pathogenic | -0.691 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/V | 0.8811 | likely_pathogenic | 0.8577 | pathogenic | -0.125 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.7177 | likely_pathogenic | 0.6451 | pathogenic | -0.111 | Destabilizing | None | None | None | None | N | 0.484642826 | None | None | N |
| R/Y | 0.8501 | likely_pathogenic | 0.7969 | pathogenic | 0.155 | 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.