Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33887 | 101884;101885;101886 | chr2:178534956;178534955;178534954 | chr2:179399683;179399682;179399681 |
| N2AB | 32246 | 96961;96962;96963 | chr2:178534956;178534955;178534954 | chr2:179399683;179399682;179399681 |
| N2A | 31319 | 94180;94181;94182 | chr2:178534956;178534955;178534954 | chr2:179399683;179399682;179399681 |
| N2B | 24822 | 74689;74690;74691 | chr2:178534956;178534955;178534954 | chr2:179399683;179399682;179399681 |
| Novex-1 | 24947 | 75064;75065;75066 | chr2:178534956;178534955;178534954 | chr2:179399683;179399682;179399681 |
| Novex-2 | 25014 | 75265;75266;75267 | chr2:178534956;178534955;178534954 | chr2:179399683;179399682;179399681 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 75
- Q(SASA): 0.178
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs1455680068  |
-0.839 | None | N | None | 0.484 | 0.451692371253 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 8.71E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.66445E-04 |
| E/K | rs1455680068 |
-0.839 | None | N | None | 0.484 | 0.451692371253 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96386E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | rs1455680068 |
-0.839 | None | N | None | 0.484 | 0.451692371253 | gnomAD-4.0.0 | 4.34036E-06 | None | None | None | None | N | None | 0 | 1.16737E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8031 | likely_pathogenic | 0.7485 | pathogenic | -0.956 | Destabilizing | None | None | None | None | N | 0.481070499 | None | None | N |
| E/C | 0.9832 | likely_pathogenic | 0.9837 | pathogenic | -0.485 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.6017 | likely_pathogenic | 0.5111 | ambiguous | -1.204 | Destabilizing | None | None | None | None | N | 0.445053771 | None | None | N |
| E/F | 0.9873 | likely_pathogenic | 0.9846 | pathogenic | -0.341 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.7811 | likely_pathogenic | 0.7522 | pathogenic | -1.372 | Destabilizing | None | None | None | None | N | 0.488652619 | None | None | N |
| E/H | 0.949 | likely_pathogenic | 0.9331 | pathogenic | -0.618 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9427 | likely_pathogenic | 0.9215 | pathogenic | 0.2 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.8721 | likely_pathogenic | 0.8101 | pathogenic | -0.665 | Destabilizing | None | None | None | None | N | 0.443282902 | None | None | N |
| E/L | 0.9646 | likely_pathogenic | 0.9479 | pathogenic | 0.2 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.9498 | likely_pathogenic | 0.9288 | pathogenic | 0.737 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.8493 | likely_pathogenic | 0.8164 | pathogenic | -1.212 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9941 | likely_pathogenic | 0.9917 | pathogenic | -0.165 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.708 | likely_pathogenic | 0.6274 | pathogenic | -1.013 | Destabilizing | None | None | None | None | N | 0.470642861 | None | None | N |
| E/R | 0.9181 | likely_pathogenic | 0.8857 | pathogenic | -0.465 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.8256 | likely_pathogenic | 0.7959 | pathogenic | -1.626 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.8429 | likely_pathogenic | 0.8208 | pathogenic | -1.257 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.8596 | likely_pathogenic | 0.834 | pathogenic | -0.165 | Destabilizing | None | None | None | None | N | 0.500965768 | None | None | N |
| E/W | 0.9955 | likely_pathogenic | 0.9946 | pathogenic | -0.101 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9616 | likely_pathogenic | 0.9561 | pathogenic | -0.059 | 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.