Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33829 | 101710;101711;101712 | chr2:178535130;178535129;178535128 | chr2:179399857;179399856;179399855 |
| N2AB | 32188 | 96787;96788;96789 | chr2:178535130;178535129;178535128 | chr2:179399857;179399856;179399855 |
| N2A | 31261 | 94006;94007;94008 | chr2:178535130;178535129;178535128 | chr2:179399857;179399856;179399855 |
| N2B | 24764 | 74515;74516;74517 | chr2:178535130;178535129;178535128 | chr2:179399857;179399856;179399855 |
| Novex-1 | 24889 | 74890;74891;74892 | chr2:178535130;178535129;178535128 | chr2:179399857;179399856;179399855 |
| Novex-2 | 24956 | 75091;75092;75093 | chr2:178535130;178535129;178535128 | chr2:179399857;179399856;179399855 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAG
- RefSeq wild type template codon: CTC
- Domain: Kinase-1
- Domain position: 17
- Q(SASA): 0.3122
- Site annotation: ATP binding
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs755890947  |
0.813 | None | N | None | 0.164 | 0.168933306366 | gnomAD-2.1.1 | 4.02E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| E/K | rs755890947 |
0.813 | None | N | None | 0.164 | 0.168933306366 | gnomAD-4.0.0 | 1.59124E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85778E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.2217 | likely_benign | 0.2241 | benign | -0.438 | Destabilizing | None | None | None | None | N | 0.33616764 | ATP binding | None | N |
| E/C | 0.8182 | likely_pathogenic | 0.8362 | pathogenic | -0.142 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/D | 0.2756 | likely_benign | 0.2793 | benign | -0.364 | Destabilizing | None | None | None | None | N | 0.438969507 | ATP binding | None | N |
| E/F | 0.8272 | likely_pathogenic | 0.8185 | pathogenic | -0.183 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/G | 0.3082 | likely_benign | 0.3206 | benign | -0.623 | Destabilizing | None | None | None | None | N | 0.332183185 | ATP binding | None | N |
| E/H | 0.4521 | ambiguous | 0.4134 | ambiguous | 0.21 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/I | 0.4969 | ambiguous | 0.4661 | ambiguous | 0.017 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/K | 0.2337 | likely_benign | 0.2035 | benign | 0.483 | Stabilizing | None | None | None | None | N | 0.386271173 | ATP binding | None | N |
| E/L | 0.509 | ambiguous | 0.4844 | ambiguous | 0.017 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/M | 0.547 | ambiguous | 0.5561 | ambiguous | 0.034 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/N | 0.3127 | likely_benign | 0.3016 | benign | -0.069 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/P | 0.5717 | likely_pathogenic | 0.5276 | ambiguous | -0.116 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/Q | 0.1095 | likely_benign | 0.0909 | benign | -0.009 | Destabilizing | None | None | None | None | N | 0.373245948 | ATP binding | None | N |
| E/R | 0.3154 | likely_benign | 0.2843 | benign | 0.712 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/S | 0.2549 | likely_benign | 0.2484 | benign | -0.156 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/T | 0.2876 | likely_benign | 0.2793 | benign | 0.016 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/V | 0.3458 | ambiguous | 0.3299 | benign | -0.116 | Destabilizing | None | None | None | None | N | 0.41453521 | ATP binding | None | N |
| E/W | 0.9236 | likely_pathogenic | 0.9215 | pathogenic | 0.031 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| E/Y | 0.6724 | likely_pathogenic | 0.6488 | pathogenic | 0.084 | Stabilizing | None | None | None | None | None | None | ATP binding | 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.