Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33847 | 101764;101765;101766 | chr2:178535076;178535075;178535074 | chr2:179399803;179399802;179399801 |
| N2AB | 32206 | 96841;96842;96843 | chr2:178535076;178535075;178535074 | chr2:179399803;179399802;179399801 |
| N2A | 31279 | 94060;94061;94062 | chr2:178535076;178535075;178535074 | chr2:179399803;179399802;179399801 |
| N2B | 24782 | 74569;74570;74571 | chr2:178535076;178535075;178535074 | chr2:179399803;179399802;179399801 |
| Novex-1 | 24907 | 74944;74945;74946 | chr2:178535076;178535075;178535074 | chr2:179399803;179399802;179399801 |
| Novex-2 | 24974 | 75145;75146;75147 | chr2:178535076;178535075;178535074 | chr2:179399803;179399802;179399801 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCC
- RefSeq wild type template codon: CGG
- Domain: Kinase-1
- Domain position: 35
- Q(SASA): 0.0996
- 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/D | None | None | None | N | None | 0.525 | 0.501874446873 | gnomAD-4.0.0 | 1.3684E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79884E-06 | 0 | 0 |
| A/V | rs1690829202  |
None | None | N | None | 0.456 | 0.376393476264 | gnomAD-4.0.0 | 6.84199E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 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 | 0.809 | likely_pathogenic | 0.8046 | pathogenic | -1.328 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.9962 | likely_pathogenic | 0.995 | pathogenic | -2.937 | Highly Destabilizing | None | None | None | None | N | 0.513813983 | None | None | N |
| A/E | 0.9901 | likely_pathogenic | 0.9861 | pathogenic | -2.644 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.9692 | likely_pathogenic | 0.9603 | pathogenic | -0.747 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.4625 | ambiguous | 0.4484 | ambiguous | -1.98 | Destabilizing | None | None | None | None | N | 0.511485754 | None | None | N |
| A/H | 0.9959 | likely_pathogenic | 0.9941 | pathogenic | -2.487 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.9157 | likely_pathogenic | 0.8896 | pathogenic | 0.125 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.9972 | likely_pathogenic | 0.9955 | pathogenic | -1.456 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.7709 | likely_pathogenic | 0.7288 | pathogenic | 0.125 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.8937 | likely_pathogenic | 0.8697 | pathogenic | -0.214 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.99 | likely_pathogenic | 0.9869 | pathogenic | -2.056 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.9926 | likely_pathogenic | 0.9933 | pathogenic | -0.355 | Destabilizing | None | None | None | None | N | 0.469036656 | None | None | N |
| A/Q | 0.984 | likely_pathogenic | 0.9779 | pathogenic | -1.674 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.9893 | likely_pathogenic | 0.9833 | pathogenic | -1.722 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.5504 | ambiguous | 0.5513 | ambiguous | -2.417 | Highly Destabilizing | None | None | None | None | N | 0.459566455 | None | None | N |
| A/T | 0.7696 | likely_pathogenic | 0.7404 | pathogenic | -1.988 | Destabilizing | None | None | None | None | N | 0.468529677 | None | None | N |
| A/V | 0.6834 | likely_pathogenic | 0.6387 | pathogenic | -0.355 | Destabilizing | None | None | None | None | N | 0.442580242 | None | None | N |
| A/W | 0.9979 | likely_pathogenic | 0.9968 | pathogenic | -1.663 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.9889 | likely_pathogenic | 0.9835 | pathogenic | -1.148 | 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.