Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33985 | 102178;102179;102180 | chr2:178534662;178534661;178534660 | chr2:179399389;179399388;179399387 |
| N2AB | 32344 | 97255;97256;97257 | chr2:178534662;178534661;178534660 | chr2:179399389;179399388;179399387 |
| N2A | 31417 | 94474;94475;94476 | chr2:178534662;178534661;178534660 | chr2:179399389;179399388;179399387 |
| N2B | 24920 | 74983;74984;74985 | chr2:178534662;178534661;178534660 | chr2:179399389;179399388;179399387 |
| Novex-1 | 25045 | 75358;75359;75360 | chr2:178534662;178534661;178534660 | chr2:179399389;179399388;179399387 |
| Novex-2 | 25112 | 75559;75560;75561 | chr2:178534662;178534661;178534660 | chr2:179399389;179399388;179399387 |
| 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: 173
- Q(SASA): 0.064
- 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/Q | rs534613934  |
-1.956 | None | D | None | 0.662 | 0.527908583987 | gnomAD-2.1.1 | 4.64E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 3.20487E-04 | 3.12E-05 | 1.40489E-04 |
| E/Q | rs534613934 |
-1.956 | None | D | None | 0.662 | 0.527908583987 | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 3.76506E-04 | 0 | 7.35E-05 | 0 | 0 |
| E/Q | rs534613934 |
-1.956 | None | D | None | 0.662 | 0.527908583987 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 2E-03 | None | None | None | 0 | None |
| E/Q | rs534613934 |
-1.956 | None | D | None | 0.662 | 0.527908583987 | gnomAD-4.0.0 | 4.48352E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.23609E-04 | 0 | 1.19672E-05 | 0 | 8.52854E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.6965 | likely_pathogenic | 0.6328 | pathogenic | -1.682 | Destabilizing | None | None | None | None | D | 0.636609331 | None | None | N |
| E/C | 0.9855 | likely_pathogenic | 0.9807 | pathogenic | -1.242 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.739 | likely_pathogenic | 0.7166 | pathogenic | -1.802 | Destabilizing | None | None | None | None | D | 0.597212779 | None | None | N |
| E/F | 0.9888 | likely_pathogenic | 0.9818 | pathogenic | -1.824 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.7851 | likely_pathogenic | 0.7306 | pathogenic | -2.007 | Highly Destabilizing | None | None | None | None | D | 0.611273023 | None | None | N |
| E/H | 0.9517 | likely_pathogenic | 0.9394 | pathogenic | -1.757 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9363 | likely_pathogenic | 0.9129 | pathogenic | -0.771 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.8028 | likely_pathogenic | 0.7289 | pathogenic | -1.643 | Destabilizing | None | None | None | None | D | 0.636609331 | None | None | N |
| E/L | 0.9475 | likely_pathogenic | 0.9287 | pathogenic | -0.771 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.9519 | likely_pathogenic | 0.9385 | pathogenic | -0.172 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.934 | likely_pathogenic | 0.9173 | pathogenic | -1.754 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9601 | likely_pathogenic | 0.9529 | pathogenic | -1.06 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.6737 | likely_pathogenic | 0.6426 | pathogenic | -1.583 | Destabilizing | None | None | None | None | D | 0.583009657 | None | None | N |
| E/R | 0.8655 | likely_pathogenic | 0.8122 | pathogenic | -1.469 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.842 | likely_pathogenic | 0.7989 | pathogenic | -2.372 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.8904 | likely_pathogenic | 0.854 | pathogenic | -2.062 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.8455 | likely_pathogenic | 0.8022 | pathogenic | -1.06 | Destabilizing | None | None | None | None | D | 0.637012939 | None | None | N |
| E/W | 0.9965 | likely_pathogenic | 0.9952 | pathogenic | -1.93 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.981 | likely_pathogenic | 0.9713 | pathogenic | -1.652 | 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.