Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33871 | 101836;101837;101838 | chr2:178535004;178535003;178535002 | chr2:179399731;179399730;179399729 |
| N2AB | 32230 | 96913;96914;96915 | chr2:178535004;178535003;178535002 | chr2:179399731;179399730;179399729 |
| N2A | 31303 | 94132;94133;94134 | chr2:178535004;178535003;178535002 | chr2:179399731;179399730;179399729 |
| N2B | 24806 | 74641;74642;74643 | chr2:178535004;178535003;178535002 | chr2:179399731;179399730;179399729 |
| Novex-1 | 24931 | 75016;75017;75018 | chr2:178535004;178535003;178535002 | chr2:179399731;179399730;179399729 |
| Novex-2 | 24998 | 75217;75218;75219 | chr2:178535004;178535003;178535002 | chr2:179399731;179399730;179399729 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: AGG
- RefSeq wild type template codon: TCC
- Domain: Kinase-1
- Domain position: 59
- Q(SASA): 0.181
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs1456770394  |
-0.675 | None | N | None | 0.291 | 0.227260227426 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| R/K | rs1456770394 |
-0.675 | None | N | None | 0.291 | 0.227260227426 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/K | rs1456770394 |
-0.675 | None | N | None | 0.291 | 0.227260227426 | gnomAD-4.0.0 | 3.84353E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.178E-06 | 0 | 0 |
| R/S | rs797046068 |
None | None | N | None | 0.282 | 0.178374595973 | gnomAD-4.0.0 | 7.52649E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89367E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8482 | likely_pathogenic | 0.6789 | pathogenic | -0.232 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.4659 | ambiguous | 0.34 | benign | -0.101 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.9546 | likely_pathogenic | 0.8809 | pathogenic | 0.095 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.7517 | likely_pathogenic | 0.5893 | pathogenic | 0.229 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.945 | likely_pathogenic | 0.8705 | pathogenic | -0.055 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.6737 | likely_pathogenic | 0.4513 | ambiguous | -0.542 | Destabilizing | None | None | None | None | N | 0.464443955 | None | None | N |
| R/H | 0.3332 | likely_benign | 0.2173 | benign | -1.157 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.8369 | likely_pathogenic | 0.6739 | pathogenic | 0.588 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/K | 0.2554 | likely_benign | 0.1758 | benign | -0.132 | Destabilizing | None | None | None | None | N | 0.4219999 | None | None | N |
| R/L | 0.7372 | likely_pathogenic | 0.5531 | ambiguous | 0.588 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.8303 | likely_pathogenic | 0.6439 | pathogenic | 0.063 | Stabilizing | None | None | None | None | N | 0.470584046 | None | None | N |
| R/N | 0.8996 | likely_pathogenic | 0.7611 | pathogenic | 0.219 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.9491 | likely_pathogenic | 0.8721 | pathogenic | 0.337 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.2454 | likely_benign | 0.1537 | benign | 0.179 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.862 | likely_pathogenic | 0.696 | pathogenic | -0.294 | Destabilizing | None | None | None | None | N | 0.449378502 | None | None | N |
| R/T | 0.8031 | likely_pathogenic | 0.5656 | pathogenic | 0.024 | Stabilizing | None | None | None | None | N | 0.490265119 | None | None | N |
| R/V | 0.8595 | likely_pathogenic | 0.726 | pathogenic | 0.337 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.6231 | likely_pathogenic | 0.444 | ambiguous | 0.092 | Stabilizing | None | None | None | None | N | 0.470584046 | None | None | N |
| R/Y | 0.862 | likely_pathogenic | 0.7292 | pathogenic | 0.426 | Stabilizing | 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.