Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34086 | 102481;102482;102483 | chr2:178534359;178534358;178534357 | chr2:179399086;179399085;179399084 |
| N2AB | 32445 | 97558;97559;97560 | chr2:178534359;178534358;178534357 | chr2:179399086;179399085;179399084 |
| N2A | 31518 | 94777;94778;94779 | chr2:178534359;178534358;178534357 | chr2:179399086;179399085;179399084 |
| N2B | 25021 | 75286;75287;75288 | chr2:178534359;178534358;178534357 | chr2:179399086;179399085;179399084 |
| Novex-1 | 25146 | 75661;75662;75663 | chr2:178534359;178534358;178534357 | chr2:179399086;179399085;179399084 |
| Novex-2 | 25213 | 75862;75863;75864 | chr2:178534359;178534358;178534357 | chr2:179399086;179399085;179399084 |
| 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: 274
- Q(SASA): 0.7229
- 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/I | None | None | None | N | None | 0.202 | 0.262662153117 | gnomAD-4.0.0 | 6.85191E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 0 |
| R/K | None | None | None | N | None | 0.094 | 0.148003135375 | gnomAD-4.0.0 | 6.85191E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99452E-07 | 0 | 0 |
| R/T | rs569650065  |
0.218 | None | N | None | 0.147 | 0.192905019026 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | N | None | 1.93949E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/T | rs569650065 |
0.218 | None | N | None | 0.147 | 0.192905019026 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20674E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs569650065 |
0.218 | None | N | None | 0.147 | 0.192905019026 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/T | rs569650065 |
0.218 | None | N | None | 0.147 | 0.192905019026 | gnomAD-4.0.0 | 4.96362E-06 | None | None | None | None | N | None | 9.3306E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60056E-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 | 0.5667 | likely_pathogenic | 0.5203 | ambiguous | 0.236 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.424 | ambiguous | 0.3792 | ambiguous | 0.038 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.8071 | likely_pathogenic | 0.7609 | pathogenic | -0.07 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.544 | ambiguous | 0.4998 | ambiguous | None | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.8612 | likely_pathogenic | 0.8141 | pathogenic | 0.025 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.4083 | ambiguous | 0.3705 | ambiguous | 0.045 | Stabilizing | None | None | None | None | N | 0.409340034 | None | None | N |
| R/H | 0.2227 | likely_benign | 0.2044 | benign | -0.542 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.646 | likely_pathogenic | 0.624 | pathogenic | 0.701 | Stabilizing | None | None | None | None | N | 0.408473242 | None | None | N |
| R/K | 0.1721 | likely_benign | 0.1513 | benign | 0.174 | Stabilizing | None | None | None | None | N | 0.390580915 | None | None | N |
| R/L | 0.5077 | ambiguous | 0.474 | ambiguous | 0.701 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.5817 | likely_pathogenic | 0.5246 | ambiguous | 0.127 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.7199 | likely_pathogenic | 0.6581 | pathogenic | 0.305 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.8071 | likely_pathogenic | 0.8136 | pathogenic | 0.566 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.1832 | likely_benign | 0.1659 | benign | 0.275 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.639 | likely_pathogenic | 0.6163 | pathogenic | 0.088 | Stabilizing | None | None | None | None | N | 0.408819959 | None | None | N |
| R/T | 0.4039 | ambiguous | 0.3907 | ambiguous | 0.288 | Stabilizing | None | None | None | None | N | 0.408993317 | None | None | N |
| R/V | 0.6784 | likely_pathogenic | 0.6753 | pathogenic | 0.566 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.5006 | ambiguous | 0.4121 | ambiguous | -0.119 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.7265 | likely_pathogenic | 0.6447 | pathogenic | 0.308 | 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.