Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33830 | 101713;101714;101715 | chr2:178535127;178535126;178535125 | chr2:179399854;179399853;179399852 |
| N2AB | 32189 | 96790;96791;96792 | chr2:178535127;178535126;178535125 | chr2:179399854;179399853;179399852 |
| N2A | 31262 | 94009;94010;94011 | chr2:178535127;178535126;178535125 | chr2:179399854;179399853;179399852 |
| N2B | 24765 | 74518;74519;74520 | chr2:178535127;178535126;178535125 | chr2:179399854;179399853;179399852 |
| Novex-1 | 24890 | 74893;74894;74895 | chr2:178535127;178535126;178535125 | chr2:179399854;179399853;179399852 |
| Novex-2 | 24957 | 75094;75095;75096 | chr2:178535127;178535126;178535125 | chr2:179399854;179399853;179399852 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: F
- RefSeq wild type transcript codon: TTT
- RefSeq wild type template codon: AAA
- Domain: Kinase-1
- Domain position: 18
- Q(SASA): 0.2325
- Site annotation: ATP binding
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | rs1575289681  |
None | None | N | None | 0.64 | 0.467161347466 | gnomAD-4.0.0 | 1.5912E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 0 |
| F/Y | None | None | None | N | None | 0.444 | 0.398872588132 | gnomAD-4.0.0 | 1.5912E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8577E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9697 | likely_pathogenic | 0.9425 | pathogenic | -1.818 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/C | 0.9388 | likely_pathogenic | 0.8973 | pathogenic | -1.063 | Destabilizing | None | None | None | None | N | 0.50070076 | ATP binding | None | N |
| F/D | 0.9897 | likely_pathogenic | 0.979 | pathogenic | 0.196 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/E | 0.9917 | likely_pathogenic | 0.9847 | pathogenic | 0.233 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/G | 0.9834 | likely_pathogenic | 0.9723 | pathogenic | -2.083 | Highly Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/H | 0.9614 | likely_pathogenic | 0.9341 | pathogenic | -0.496 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/I | 0.9053 | likely_pathogenic | 0.851 | pathogenic | -1.071 | Destabilizing | None | None | None | None | N | 0.506270167 | ATP binding | None | N |
| F/K | 0.9913 | likely_pathogenic | 0.9833 | pathogenic | -0.662 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/L | 0.9903 | likely_pathogenic | 0.9842 | pathogenic | -1.071 | Destabilizing | None | None | None | None | N | 0.505256209 | ATP binding | None | N |
| F/M | 0.9336 | likely_pathogenic | 0.9032 | pathogenic | -0.891 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/N | 0.9671 | likely_pathogenic | 0.941 | pathogenic | -0.552 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/P | 0.9994 | likely_pathogenic | 0.9986 | pathogenic | -1.306 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/Q | 0.9892 | likely_pathogenic | 0.9824 | pathogenic | -0.677 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/R | 0.9822 | likely_pathogenic | 0.9709 | pathogenic | -0.052 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/S | 0.9672 | likely_pathogenic | 0.933 | pathogenic | -1.454 | Destabilizing | None | None | None | None | N | 0.480341552 | ATP binding | None | N |
| F/T | 0.9609 | likely_pathogenic | 0.9209 | pathogenic | -1.327 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/V | 0.8922 | likely_pathogenic | 0.8361 | pathogenic | -1.306 | Destabilizing | None | None | None | None | N | 0.506016678 | ATP binding | None | N |
| F/W | 0.8354 | likely_pathogenic | 0.7767 | pathogenic | -0.485 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| F/Y | 0.4328 | ambiguous | 0.3881 | ambiguous | -0.543 | Destabilizing | None | None | None | None | N | 0.502679843 | ATP binding | 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.