Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33827 | 101704;101705;101706 | chr2:178535136;178535135;178535134 | chr2:179399863;179399862;179399861 |
| N2AB | 32186 | 96781;96782;96783 | chr2:178535136;178535135;178535134 | chr2:179399863;179399862;179399861 |
| N2A | 31259 | 94000;94001;94002 | chr2:178535136;178535135;178535134 | chr2:179399863;179399862;179399861 |
| N2B | 24762 | 74509;74510;74511 | chr2:178535136;178535135;178535134 | chr2:179399863;179399862;179399861 |
| Novex-1 | 24887 | 74884;74885;74886 | chr2:178535136;178535135;178535134 | chr2:179399863;179399862;179399861 |
| Novex-2 | 24954 | 75085;75086;75087 | chr2:178535136;178535135;178535134 | chr2:179399863;179399862;179399861 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: CGT
- RefSeq wild type template codon: GCA
- Domain: Kinase-1
- Domain position: 15
- Q(SASA): 0.3668
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs372067498  |
-0.402 | None | N | None | 0.46 | 0.586965457386 | gnomAD-2.1.1 | 3.22E-05 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.96091E-04 | None | 0 | 1.78E-05 | 0 |
| R/C | rs372067498 |
-0.402 | None | N | None | 0.46 | 0.586965457386 | gnomAD-3.1.2 | 1.97E-05 | None | None | ATP binding | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14594E-04 | 0 |
| R/C | rs372067498 |
-0.402 | None | N | None | 0.46 | 0.586965457386 | gnomAD-4.0.0 | 2.16907E-05 | None | None | ATP binding | None | N | None | 4.00577E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.933E-06 | 2.52525E-04 | 3.20215E-05 |
| R/H | rs376403708 |
-1.179 | None | D | None | 0.23 | None | gnomAD-2.1.1 | 3.68023E-04 | None | None | ATP binding | None | N | None | 1.65371E-04 | 4.24328E-04 | None | 0 | 0 | None | 6.54E-05 | None | 2.7642E-03 | 8.61E-05 | 2.80899E-04 |
| R/H | rs376403708 |
-1.179 | None | D | None | 0.23 | None | gnomAD-3.1.2 | 2.82582E-04 | None | None | ATP binding | None | N | None | 1.68935E-04 | 6.55E-05 | 0 | 0 | 0 | None | 2.73327E-03 | 0 | 7.35E-05 | 2.07039E-04 | 0 |
| R/H | rs376403708 |
-1.179 | None | D | None | 0.23 | None | 1000 genomes | 1.99681E-04 | None | None | ATP binding | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| R/H | rs376403708 |
-1.179 | None | D | None | 0.23 | None | gnomAD-4.0.0 | 1.5739E-04 | None | None | ATP binding | None | N | None | 1.19955E-04 | 2.83277E-04 | None | 0 | 0 | None | 2.78508E-03 | 0 | 3.64454E-05 | 2.19582E-05 | 8.00179E-05 |
| R/P | None | None | None | N | None | 0.509 | 0.467247493403 | gnomAD-4.0.0 | 6.84212E-07 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99423E-07 | 0 | 0 |
| R/S | rs372067498 |
None | None | N | None | 0.423 | 0.4018988957 | gnomAD-3.1.2 | 6.58E-06 | None | None | ATP binding | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| R/S | rs372067498 |
None | None | N | None | 0.423 | 0.4018988957 | gnomAD-4.0.0 | 6.57566E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 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 | 0.6824 | likely_pathogenic | 0.6707 | pathogenic | -0.299 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/C | 0.3282 | likely_benign | 0.3268 | benign | -0.344 | Destabilizing | None | None | None | None | N | 0.485794915 | ATP binding | None | N |
| R/D | 0.8332 | likely_pathogenic | 0.8206 | pathogenic | -0.041 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/E | 0.5647 | likely_pathogenic | 0.5273 | ambiguous | 0.019 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/F | 0.7634 | likely_pathogenic | 0.7511 | pathogenic | -0.545 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/G | 0.5285 | ambiguous | 0.5032 | ambiguous | -0.496 | Destabilizing | None | None | None | None | N | 0.488655298 | ATP binding | None | N |
| R/H | 0.1499 | likely_benign | 0.1244 | benign | -0.925 | Destabilizing | None | None | None | None | D | 0.525477424 | ATP binding | None | N |
| R/I | 0.5778 | likely_pathogenic | 0.5498 | ambiguous | 0.187 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/K | 0.1827 | likely_benign | 0.153 | benign | -0.271 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/L | 0.5006 | ambiguous | 0.4892 | ambiguous | 0.187 | Stabilizing | None | None | None | None | N | 0.496390752 | ATP binding | None | N |
| R/M | 0.6129 | likely_pathogenic | 0.5675 | pathogenic | -0.08 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/N | 0.7361 | likely_pathogenic | 0.7313 | pathogenic | 0.092 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/P | 0.8664 | likely_pathogenic | 0.8775 | pathogenic | 0.045 | Stabilizing | None | None | None | None | N | 0.511532493 | ATP binding | None | N |
| R/Q | 0.1698 | likely_benign | 0.1585 | benign | -0.103 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/S | 0.719 | likely_pathogenic | 0.7075 | pathogenic | -0.427 | Destabilizing | None | None | None | None | N | 0.485993529 | ATP binding | None | N |
| R/T | 0.5557 | ambiguous | 0.5155 | ambiguous | -0.23 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/V | 0.6597 | likely_pathogenic | 0.6284 | pathogenic | 0.045 | Stabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/W | 0.3969 | ambiguous | 0.3775 | ambiguous | -0.493 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| R/Y | 0.6157 | likely_pathogenic | 0.5975 | pathogenic | -0.1 | Destabilizing | 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.