Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34077 | 102454;102455;102456 | chr2:178534386;178534385;178534384 | chr2:179399113;179399112;179399111 |
| N2AB | 32436 | 97531;97532;97533 | chr2:178534386;178534385;178534384 | chr2:179399113;179399112;179399111 |
| N2A | 31509 | 94750;94751;94752 | chr2:178534386;178534385;178534384 | chr2:179399113;179399112;179399111 |
| N2B | 25012 | 75259;75260;75261 | chr2:178534386;178534385;178534384 | chr2:179399113;179399112;179399111 |
| Novex-1 | 25137 | 75634;75635;75636 | chr2:178534386;178534385;178534384 | chr2:179399113;179399112;179399111 |
| Novex-2 | 25204 | 75835;75836;75837 | chr2:178534386;178534385;178534384 | chr2:179399113;179399112;179399111 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: I
- RefSeq wild type transcript codon: ATA
- RefSeq wild type template codon: TAT
- Domain: Kinase-1
- Domain position: 265
- Q(SASA): 0.2174
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | None | None | None | N | None | 0.056 | 0.152612264143 | gnomAD-4.0.0 | 6.85709E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99455E-07 | 0 | 0 |
| I/T | rs1290306844  |
-1.335 | None | N | None | 0.076 | 0.128392430309 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| I/T | rs1290306844 |
-1.335 | None | N | None | 0.076 | 0.128392430309 | gnomAD-4.0.0 | 2.05707E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.47794E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.3046 | likely_benign | 0.3313 | benign | -1.361 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.7694 | likely_pathogenic | 0.7536 | pathogenic | -0.868 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.7897 | likely_pathogenic | 0.8575 | pathogenic | -0.753 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.5147 | ambiguous | 0.6673 | pathogenic | -0.774 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.3043 | likely_benign | 0.3278 | benign | -0.937 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/G | 0.7023 | likely_pathogenic | 0.7637 | pathogenic | -1.648 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.6828 | likely_pathogenic | 0.7492 | pathogenic | -0.822 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.4126 | ambiguous | 0.5373 | ambiguous | -0.975 | Destabilizing | None | None | None | None | N | 0.428272511 | None | None | N |
| I/L | 0.1655 | likely_benign | 0.1437 | benign | -0.669 | Destabilizing | None | None | None | None | N | 0.426018853 | None | None | N |
| I/M | 0.11 | likely_benign | 0.1078 | benign | -0.553 | Destabilizing | None | None | None | None | N | 0.428619228 | None | None | N |
| I/N | 0.3757 | ambiguous | 0.4413 | ambiguous | -0.784 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/P | 0.8185 | likely_pathogenic | 0.8877 | pathogenic | -0.867 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.4484 | ambiguous | 0.5888 | pathogenic | -0.97 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.3191 | likely_benign | 0.427 | ambiguous | -0.363 | Destabilizing | None | None | None | None | N | 0.427752436 | None | None | N |
| I/S | 0.3627 | ambiguous | 0.4354 | ambiguous | -1.357 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/T | 0.1878 | likely_benign | 0.1952 | benign | -1.265 | Destabilizing | None | None | None | None | N | 0.409513392 | None | None | N |
| I/V | 0.1452 | likely_benign | 0.1416 | benign | -0.867 | Destabilizing | None | None | None | None | N | 0.427579078 | None | None | N |
| I/W | 0.7913 | likely_pathogenic | 0.824 | pathogenic | -0.986 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.5424 | ambiguous | 0.5869 | pathogenic | -0.771 | 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.