Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33886 | 101881;101882;101883 | chr2:178534959;178534958;178534957 | chr2:179399686;179399685;179399684 |
| N2AB | 32245 | 96958;96959;96960 | chr2:178534959;178534958;178534957 | chr2:179399686;179399685;179399684 |
| N2A | 31318 | 94177;94178;94179 | chr2:178534959;178534958;178534957 | chr2:179399686;179399685;179399684 |
| N2B | 24821 | 74686;74687;74688 | chr2:178534959;178534958;178534957 | chr2:179399686;179399685;179399684 |
| Novex-1 | 24946 | 75061;75062;75063 | chr2:178534959;178534958;178534957 | chr2:179399686;179399685;179399684 |
| Novex-2 | 25013 | 75262;75263;75264 | chr2:178534959;178534958;178534957 | chr2:179399686;179399685;179399684 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 74
- Q(SASA): 0.484
- 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/D | rs1171862038  |
-0.054 | None | N | None | 0.227 | 0.266385636622 | gnomAD-4.0.0 | 1.36932E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.7991E-06 | 0 | 0 |
| E/Q | None | None | None | N | None | 0.323 | 0.27479166964 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-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 | 0.523 | ambiguous | 0.5242 | ambiguous | -0.518 | Destabilizing | None | None | None | None | N | 0.456960622 | None | None | N |
| E/C | 0.98 | likely_pathogenic | 0.984 | pathogenic | -0.154 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.3384 | likely_benign | 0.347 | ambiguous | -0.383 | Destabilizing | None | None | None | None | N | 0.376784898 | None | None | N |
| E/F | 0.9805 | likely_pathogenic | 0.9809 | pathogenic | -0.376 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.4508 | ambiguous | 0.442 | ambiguous | -0.739 | Destabilizing | None | None | None | None | N | 0.428944515 | None | None | N |
| E/H | 0.8904 | likely_pathogenic | 0.8807 | pathogenic | -0.283 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9207 | likely_pathogenic | 0.9291 | pathogenic | 0.039 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.6046 | likely_pathogenic | 0.5616 | ambiguous | 0.008 | Stabilizing | None | None | None | None | N | 0.417402157 | None | None | N |
| E/L | 0.8928 | likely_pathogenic | 0.893 | pathogenic | 0.039 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.905 | likely_pathogenic | 0.9176 | pathogenic | 0.201 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.6686 | likely_pathogenic | 0.685 | pathogenic | -0.21 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.944 | likely_pathogenic | 0.9266 | pathogenic | -0.127 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.4102 | ambiguous | 0.3924 | ambiguous | -0.171 | Destabilizing | None | None | None | None | N | 0.437220068 | None | None | N |
| E/R | 0.7134 | likely_pathogenic | 0.6684 | pathogenic | 0.236 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.5831 | likely_pathogenic | 0.5878 | pathogenic | -0.428 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.6542 | likely_pathogenic | 0.6758 | pathogenic | -0.256 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.7821 | likely_pathogenic | 0.8009 | pathogenic | -0.127 | Destabilizing | None | None | None | None | N | 0.469505845 | None | None | N |
| E/W | 0.9887 | likely_pathogenic | 0.9893 | pathogenic | -0.222 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.954 | likely_pathogenic | 0.9498 | pathogenic | -0.15 | 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.