Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33921 | 101986;101987;101988 | chr2:178534854;178534853;178534852 | chr2:179399581;179399580;179399579 |
| N2AB | 32280 | 97063;97064;97065 | chr2:178534854;178534853;178534852 | chr2:179399581;179399580;179399579 |
| N2A | 31353 | 94282;94283;94284 | chr2:178534854;178534853;178534852 | chr2:179399581;179399580;179399579 |
| N2B | 24856 | 74791;74792;74793 | chr2:178534854;178534853;178534852 | chr2:179399581;179399580;179399579 |
| Novex-1 | 24981 | 75166;75167;75168 | chr2:178534854;178534853;178534852 | chr2:179399581;179399580;179399579 |
| Novex-2 | 25048 | 75367;75368;75369 | chr2:178534854;178534853;178534852 | chr2:179399581;179399580;179399579 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAC
- RefSeq wild type template codon: GTG
- Domain: Kinase-1
- Domain position: 109
- Q(SASA): 0.2429
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/Y | rs1410541718  |
0.456 | None | N | None | 0.179 | 0.207176502487 | gnomAD-2.1.1 | 4.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| H/Y | rs1410541718 |
0.456 | None | N | None | 0.179 | 0.207176502487 | gnomAD-4.0.0 | 2.05989E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.4263 | ambiguous | 0.3011 | benign | -0.899 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.2073 | likely_benign | 0.1364 | benign | -0.195 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.4124 | ambiguous | 0.3435 | ambiguous | -0.467 | Destabilizing | None | None | None | None | N | 0.503519631 | None | None | N |
| H/E | 0.351 | ambiguous | 0.2645 | benign | -0.382 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.4078 | ambiguous | 0.3104 | benign | 0.001 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.3402 | ambiguous | 0.2325 | benign | -1.248 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.5012 | ambiguous | 0.3417 | ambiguous | 0.058 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.1992 | likely_benign | 0.1275 | benign | -0.751 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.1968 | likely_benign | 0.1308 | benign | 0.058 | Stabilizing | None | None | None | None | N | 0.42253583 | None | None | N |
| H/M | 0.5619 | ambiguous | 0.445 | ambiguous | -0.031 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.192 | likely_benign | 0.1518 | benign | -0.713 | Destabilizing | None | None | None | None | N | 0.469676416 | None | None | N |
| H/P | 0.8657 | likely_pathogenic | 0.8402 | pathogenic | -0.24 | Destabilizing | None | None | None | None | N | 0.50369299 | None | None | N |
| H/Q | 0.1573 | likely_benign | 0.1018 | benign | -0.504 | Destabilizing | None | None | None | None | N | 0.422287901 | None | None | N |
| H/R | 0.083 | likely_benign | 0.0509 | benign | -1.116 | Destabilizing | None | None | None | None | N | 0.379246413 | None | None | N |
| H/S | 0.2942 | likely_benign | 0.2162 | benign | -0.841 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.363 | ambiguous | 0.2551 | benign | -0.654 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.4435 | ambiguous | 0.3086 | benign | -0.24 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.3366 | likely_benign | 0.2387 | benign | 0.227 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.148 | likely_benign | 0.1056 | benign | 0.438 | Stabilizing | None | None | None | None | N | 0.416919367 | 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.