Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33961 | 102106;102107;102108 | chr2:178534734;178534733;178534732 | chr2:179399461;179399460;179399459 |
| N2AB | 32320 | 97183;97184;97185 | chr2:178534734;178534733;178534732 | chr2:179399461;179399460;179399459 |
| N2A | 31393 | 94402;94403;94404 | chr2:178534734;178534733;178534732 | chr2:179399461;179399460;179399459 |
| N2B | 24896 | 74911;74912;74913 | chr2:178534734;178534733;178534732 | chr2:179399461;179399460;179399459 |
| Novex-1 | 25021 | 75286;75287;75288 | chr2:178534734;178534733;178534732 | chr2:179399461;179399460;179399459 |
| Novex-2 | 25088 | 75487;75488;75489 | chr2:178534734;178534733;178534732 | chr2:179399461;179399460;179399459 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: G
- RefSeq wild type transcript codon: GGT
- RefSeq wild type template codon: CCA
- Domain: Kinase-1
- Domain position: 149
- Q(SASA): 0.121
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | None | D | None | 0.708 | 0.735635039567 | gnomAD-4.0.0 | 6.84197E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99455E-07 | 0 | 0 |
| G/S | rs775256517  |
-1.161 | None | D | None | 0.678 | 0.727475883302 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs775256517 |
-1.161 | None | D | None | 0.678 | 0.727475883302 | gnomAD-4.0.0 | 1.36841E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51927E-05 | None | 0 | 0 | 8.99459E-07 | 0 | 0 |
| G/V | rs1184245523 |
-0.54 | None | D | None | 0.755 | 0.900355303819 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/V | rs1184245523 |
-0.54 | None | D | None | 0.755 | 0.900355303819 | gnomAD-4.0.0 | 6.84197E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6912 | likely_pathogenic | 0.6149 | pathogenic | -0.814 | Destabilizing | None | None | None | None | D | 0.608512024 | None | None | N |
| G/C | 0.8385 | likely_pathogenic | 0.7979 | pathogenic | -1.526 | Destabilizing | None | None | None | None | D | 0.63027478 | None | None | N |
| G/D | 0.9256 | likely_pathogenic | 0.8953 | pathogenic | -2.415 | Highly Destabilizing | None | None | None | None | D | 0.589969212 | None | None | N |
| G/E | 0.9351 | likely_pathogenic | 0.8924 | pathogenic | -2.451 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| G/F | 0.9775 | likely_pathogenic | 0.9671 | pathogenic | -1.216 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.9681 | likely_pathogenic | 0.9475 | pathogenic | -1.096 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.9696 | likely_pathogenic | 0.9506 | pathogenic | -0.48 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.9759 | likely_pathogenic | 0.96 | pathogenic | -1.319 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.9524 | likely_pathogenic | 0.9343 | pathogenic | -0.48 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.9814 | likely_pathogenic | 0.9722 | pathogenic | -0.542 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.941 | likely_pathogenic | 0.9204 | pathogenic | -1.328 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.9773 | likely_pathogenic | 0.9666 | pathogenic | -0.555 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.9381 | likely_pathogenic | 0.9076 | pathogenic | -1.6 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.9398 | likely_pathogenic | 0.9039 | pathogenic | -0.902 | Destabilizing | None | None | None | None | D | 0.646092337 | None | None | N |
| G/S | 0.5617 | ambiguous | 0.4929 | ambiguous | -1.479 | Destabilizing | None | None | None | None | D | 0.589969212 | None | None | N |
| G/T | 0.8955 | likely_pathogenic | 0.8534 | pathogenic | -1.455 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.9465 | likely_pathogenic | 0.9184 | pathogenic | -0.555 | Destabilizing | None | None | None | None | D | 0.646294141 | None | None | N |
| G/W | 0.9626 | likely_pathogenic | 0.9368 | pathogenic | -1.528 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Y | 0.9771 | likely_pathogenic | 0.9653 | pathogenic | -1.118 | 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.