Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33936 | 102031;102032;102033 | chr2:178534809;178534808;178534807 | chr2:179399536;179399535;179399534 |
| N2AB | 32295 | 97108;97109;97110 | chr2:178534809;178534808;178534807 | chr2:179399536;179399535;179399534 |
| N2A | 31368 | 94327;94328;94329 | chr2:178534809;178534808;178534807 | chr2:179399536;179399535;179399534 |
| N2B | 24871 | 74836;74837;74838 | chr2:178534809;178534808;178534807 | chr2:179399536;179399535;179399534 |
| Novex-1 | 24996 | 75211;75212;75213 | chr2:178534809;178534808;178534807 | chr2:179399536;179399535;179399534 |
| Novex-2 | 25063 | 75412;75413;75414 | chr2:178534809;178534808;178534807 | chr2:179399536;179399535;179399534 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: G
- RefSeq wild type transcript codon: GGA
- RefSeq wild type template codon: CCT
- Domain: Kinase-1
- Domain position: 124
- Q(SASA): 0.1006
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs753079587  |
-0.732 | None | N | None | 0.42 | 0.119812018005 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| G/A | rs753079587 |
-0.732 | None | N | None | 0.42 | 0.119812018005 | gnomAD-4.0.0 | 2.39871E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.1481E-05 | 0 | 0 |
| G/E | None | None | None | N | None | 0.401 | 0.340032825777 | gnomAD-4.0.0 | 6.85346E-07 | None | None | None | None | N | None | 0 | 2.23624E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.391 | ambiguous | 0.275 | benign | -0.878 | Destabilizing | None | None | None | None | N | 0.337650507 | None | None | N |
| G/C | 0.5915 | likely_pathogenic | 0.4704 | ambiguous | -0.925 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/D | 0.9495 | likely_pathogenic | 0.9302 | pathogenic | -2.554 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| G/E | 0.9379 | likely_pathogenic | 0.9103 | pathogenic | -2.339 | Highly Destabilizing | None | None | None | None | N | 0.45738191 | None | None | N |
| G/F | 0.963 | likely_pathogenic | 0.9441 | pathogenic | -0.574 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.9739 | likely_pathogenic | 0.9553 | pathogenic | -2.159 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.8485 | likely_pathogenic | 0.7402 | pathogenic | 0.328 | Stabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.9757 | likely_pathogenic | 0.9632 | pathogenic | -1.242 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.9121 | likely_pathogenic | 0.8396 | pathogenic | 0.328 | Stabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.9482 | likely_pathogenic | 0.9048 | pathogenic | 0.123 | Stabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.9425 | likely_pathogenic | 0.9229 | pathogenic | -1.59 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.977 | likely_pathogenic | 0.9791 | pathogenic | -0.034 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.9432 | likely_pathogenic | 0.9081 | pathogenic | -1.32 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.9324 | likely_pathogenic | 0.8942 | pathogenic | -1.442 | Destabilizing | None | None | None | None | N | 0.457208551 | None | None | N |
| G/S | 0.427 | ambiguous | 0.348 | ambiguous | -1.863 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/T | 0.7305 | likely_pathogenic | 0.6275 | pathogenic | -1.544 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.7761 | likely_pathogenic | 0.6432 | pathogenic | -0.034 | Destabilizing | None | None | None | None | N | 0.302436281 | None | None | N |
| G/W | 0.9516 | likely_pathogenic | 0.9266 | pathogenic | -1.566 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Y | 0.9663 | likely_pathogenic | 0.9407 | pathogenic | -0.962 | 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.