Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34079 | 102460;102461;102462 | chr2:178534380;178534379;178534378 | chr2:179399107;179399106;179399105 |
| N2AB | 32438 | 97537;97538;97539 | chr2:178534380;178534379;178534378 | chr2:179399107;179399106;179399105 |
| N2A | 31511 | 94756;94757;94758 | chr2:178534380;178534379;178534378 | chr2:179399107;179399106;179399105 |
| N2B | 25014 | 75265;75266;75267 | chr2:178534380;178534379;178534378 | chr2:179399107;179399106;179399105 |
| Novex-1 | 25139 | 75640;75641;75642 | chr2:178534380;178534379;178534378 | chr2:179399107;179399106;179399105 |
| Novex-2 | 25206 | 75841;75842;75843 | chr2:178534380;178534379;178534378 | chr2:179399107;179399106;179399105 |
| 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: 267
- Q(SASA): 0.6379
- 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 | rs755581166  |
0.216 | None | N | None | 0.085 | 0.0482279557977 | gnomAD-2.1.1 | 8.13E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| R/K | rs755581166 |
0.216 | None | N | None | 0.085 | 0.0482279557977 | gnomAD-4.0.0 | 2.05707E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69838E-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 | 0.2855 | likely_benign | 0.343 | ambiguous | -0.007 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.3452 | ambiguous | 0.4249 | ambiguous | -0.089 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.4602 | ambiguous | 0.4918 | ambiguous | -0.066 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.2733 | likely_benign | 0.3298 | benign | 0.007 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.5846 | likely_pathogenic | 0.6096 | pathogenic | -0.173 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.2087 | likely_benign | 0.2676 | benign | -0.223 | Destabilizing | None | None | None | None | N | 0.409860109 | None | None | N |
| R/H | 0.1605 | likely_benign | 0.1992 | benign | -0.751 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.242 | likely_benign | 0.3036 | benign | 0.528 | Stabilizing | None | None | None | None | N | 0.409513392 | None | None | N |
| R/K | 0.1091 | likely_benign | 0.1287 | benign | -0.074 | Destabilizing | None | None | None | None | N | 0.409340034 | None | None | N |
| R/L | 0.253 | likely_benign | 0.3079 | benign | 0.528 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.2291 | likely_benign | 0.273 | benign | 0.092 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.3598 | ambiguous | 0.4118 | ambiguous | 0.204 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.7459 | likely_pathogenic | 0.8355 | pathogenic | 0.371 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.1415 | likely_benign | 0.178 | benign | 0.104 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.3679 | ambiguous | 0.448 | ambiguous | -0.159 | Destabilizing | None | None | None | None | N | 0.408993317 | None | None | N |
| R/T | 0.1714 | likely_benign | 0.2128 | benign | 0.054 | Stabilizing | None | None | None | None | N | 0.409340034 | None | None | N |
| R/V | 0.32 | likely_benign | 0.4232 | ambiguous | 0.371 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.3014 | likely_benign | 0.3113 | benign | -0.201 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.4612 | ambiguous | 0.4707 | ambiguous | 0.201 | 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.