Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33950 | 102073;102074;102075 | chr2:178534767;178534766;178534765 | chr2:179399494;179399493;179399492 |
| N2AB | 32309 | 97150;97151;97152 | chr2:178534767;178534766;178534765 | chr2:179399494;179399493;179399492 |
| N2A | 31382 | 94369;94370;94371 | chr2:178534767;178534766;178534765 | chr2:179399494;179399493;179399492 |
| N2B | 24885 | 74878;74879;74880 | chr2:178534767;178534766;178534765 | chr2:179399494;179399493;179399492 |
| Novex-1 | 25010 | 75253;75254;75255 | chr2:178534767;178534766;178534765 | chr2:179399494;179399493;179399492 |
| Novex-2 | 25077 | 75454;75455;75456 | chr2:178534767;178534766;178534765 | chr2:179399494;179399493;179399492 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: AGA
- RefSeq wild type template codon: TCT
- Domain: Kinase-1
- Domain position: 138
- Q(SASA): 0.497
- 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/G | rs1013907314  |
None | None | N | None | 0.468 | 0.402471007487 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/G | rs1013907314 |
None | None | N | None | 0.468 | 0.402471007487 | gnomAD-4.0.0 | 3.71867E-06 | None | None | None | None | N | None | 0 | 1.66683E-05 | None | 0 | 0 | None | 0 | 0 | 3.39038E-06 | 0 | 1.60113E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8017 | likely_pathogenic | 0.7519 | pathogenic | -0.145 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.5907 | likely_pathogenic | 0.5162 | ambiguous | -0.28 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.9085 | likely_pathogenic | 0.8887 | pathogenic | -0.012 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.7154 | likely_pathogenic | 0.6724 | pathogenic | 0.044 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.9301 | likely_pathogenic | 0.9052 | pathogenic | -0.435 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.6078 | likely_pathogenic | 0.539 | ambiguous | -0.326 | Destabilizing | None | None | None | None | N | 0.437718714 | None | None | N |
| R/H | 0.3658 | ambiguous | 0.3316 | benign | -0.783 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.8059 | likely_pathogenic | 0.7547 | pathogenic | 0.292 | Stabilizing | None | None | None | None | N | 0.463134446 | None | None | N |
| R/K | 0.2802 | likely_benign | 0.2415 | benign | -0.145 | Destabilizing | None | None | None | None | N | 0.413303059 | None | None | N |
| R/L | 0.7057 | likely_pathogenic | 0.6465 | pathogenic | 0.292 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.8206 | likely_pathogenic | 0.7572 | pathogenic | -0.033 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.8799 | likely_pathogenic | 0.8464 | pathogenic | 0.113 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.8103 | likely_pathogenic | 0.7848 | pathogenic | 0.166 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.2734 | likely_benign | 0.2358 | benign | -0.03 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.8217 | likely_pathogenic | 0.7884 | pathogenic | -0.325 | Destabilizing | None | None | None | None | N | 0.435659843 | None | None | N |
| R/T | 0.7293 | likely_pathogenic | 0.6688 | pathogenic | -0.136 | Destabilizing | None | None | None | None | N | 0.440777662 | None | None | N |
| R/V | 0.8341 | likely_pathogenic | 0.8 | pathogenic | 0.166 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.6215 | likely_pathogenic | 0.5389 | ambiguous | -0.462 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.8486 | likely_pathogenic | 0.7975 | pathogenic | -0.047 | 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.