Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34126 | 102601;102602;102603 | chr2:178534239;178534238;178534237 | chr2:179398966;179398965;179398964 |
| N2AB | 32485 | 97678;97679;97680 | chr2:178534239;178534238;178534237 | chr2:179398966;179398965;179398964 |
| N2A | 31558 | 94897;94898;94899 | chr2:178534239;178534238;178534237 | chr2:179398966;179398965;179398964 |
| N2B | 25061 | 75406;75407;75408 | chr2:178534239;178534238;178534237 | chr2:179398966;179398965;179398964 |
| Novex-1 | 25186 | 75781;75782;75783 | chr2:178534239;178534238;178534237 | chr2:179398966;179398965;179398964 |
| Novex-2 | 25253 | 75982;75983;75984 | chr2:178534239;178534238;178534237 | chr2:179398966;179398965;179398964 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: A
- RefSeq wild type transcript codon: GCT
- RefSeq wild type template codon: CGA
- Domain: Kinase-1
- Domain position: 314
- Q(SASA): 0.0956
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs1280930563  |
None | None | N | None | 0.207 | 0.437850553699 | 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 |
| A/V | rs1280930563 |
None | None | N | None | 0.207 | 0.437850553699 | gnomAD-4.0.0 | 6.4049E-06 | None | None | None | None | N | None | 0 | 3.38949E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 8.53048E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7153 | likely_pathogenic | 0.6763 | pathogenic | -0.926 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/D | 0.8009 | likely_pathogenic | 0.7987 | pathogenic | -1.946 | Destabilizing | None | None | None | None | N | 0.446648494 | None | None | N |
| A/E | 0.7016 | likely_pathogenic | 0.6872 | pathogenic | -1.788 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/F | 0.7822 | likely_pathogenic | 0.7607 | pathogenic | -0.721 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/G | 0.1922 | likely_benign | 0.179 | benign | -1.471 | Destabilizing | None | None | None | None | N | 0.427889375 | None | None | N |
| A/H | 0.8357 | likely_pathogenic | 0.8322 | pathogenic | -1.928 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/I | 0.7361 | likely_pathogenic | 0.7876 | pathogenic | 0.149 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/K | 0.8408 | likely_pathogenic | 0.8382 | pathogenic | -1.321 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/L | 0.5135 | ambiguous | 0.5277 | ambiguous | 0.149 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/M | 0.6402 | likely_pathogenic | 0.6482 | pathogenic | 0.067 | Stabilizing | None | None | None | None | None | None | None | None | N |
| A/N | 0.674 | likely_pathogenic | 0.6839 | pathogenic | -1.458 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/P | 0.7663 | likely_pathogenic | 0.7876 | pathogenic | -0.197 | Destabilizing | None | None | None | None | N | 0.447341927 | None | None | N |
| A/Q | 0.6414 | likely_pathogenic | 0.6454 | pathogenic | -1.312 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/R | 0.7517 | likely_pathogenic | 0.7365 | pathogenic | -1.327 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/S | 0.1291 | likely_benign | 0.1406 | benign | -1.88 | Destabilizing | None | None | None | None | N | 0.445434986 | None | None | N |
| A/T | 0.2223 | likely_benign | 0.2647 | benign | -1.599 | Destabilizing | None | None | None | None | N | 0.446475136 | None | None | N |
| A/V | 0.4422 | ambiguous | 0.494 | ambiguous | -0.197 | Destabilizing | None | None | None | None | N | 0.446301777 | None | None | N |
| A/W | 0.9567 | likely_pathogenic | 0.9478 | pathogenic | -1.467 | Destabilizing | None | None | None | None | None | None | None | None | N |
| A/Y | 0.8674 | likely_pathogenic | 0.8471 | pathogenic | -0.897 | 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.