Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33878 | 101857;101858;101859 | chr2:178534983;178534982;178534981 | chr2:179399710;179399709;179399708 |
| N2AB | 32237 | 96934;96935;96936 | chr2:178534983;178534982;178534981 | chr2:179399710;179399709;179399708 |
| N2A | 31310 | 94153;94154;94155 | chr2:178534983;178534982;178534981 | chr2:179399710;179399709;179399708 |
| N2B | 24813 | 74662;74663;74664 | chr2:178534983;178534982;178534981 | chr2:179399710;179399709;179399708 |
| Novex-1 | 24938 | 75037;75038;75039 | chr2:178534983;178534982;178534981 | chr2:179399710;179399709;179399708 |
| Novex-2 | 25005 | 75238;75239;75240 | chr2:178534983;178534982;178534981 | chr2:179399710;179399709;179399708 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: CTC
- RefSeq wild type template codon: GAG
- Domain: Kinase-1
- Domain position: 66
- Q(SASA): 0.0905
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1235957959  |
None | None | N | None | 0.517 | 0.740275579889 | gnomAD-4.0.0 | 6.8432E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99454E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9202 | likely_pathogenic | 0.9189 | pathogenic | -2.62 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.916 | likely_pathogenic | 0.9221 | pathogenic | -1.553 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9959 | likely_pathogenic | 0.996 | pathogenic | -3.016 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9771 | likely_pathogenic | 0.9769 | pathogenic | -2.814 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.7617 | likely_pathogenic | 0.765 | pathogenic | -1.651 | Destabilizing | None | None | None | None | N | 0.486950685 | None | None | N |
| L/G | 0.9815 | likely_pathogenic | 0.9804 | pathogenic | -3.124 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.9544 | likely_pathogenic | 0.9558 | pathogenic | -2.589 | Highly Destabilizing | None | None | None | None | D | 0.53789977 | None | None | N |
| L/I | 0.3305 | likely_benign | 0.3446 | ambiguous | -1.164 | Destabilizing | None | None | None | None | N | 0.486875006 | None | None | N |
| L/K | 0.9577 | likely_pathogenic | 0.9578 | pathogenic | -2.096 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.4422 | ambiguous | 0.4479 | ambiguous | -0.847 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.9749 | likely_pathogenic | 0.9758 | pathogenic | -2.342 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9713 | likely_pathogenic | 0.9726 | pathogenic | -1.632 | Destabilizing | None | None | None | None | D | 0.53789977 | None | None | N |
| L/Q | 0.9302 | likely_pathogenic | 0.9316 | pathogenic | -2.262 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.9351 | likely_pathogenic | 0.935 | pathogenic | -1.695 | Destabilizing | None | None | None | None | D | 0.555585951 | None | None | N |
| L/S | 0.9718 | likely_pathogenic | 0.9727 | pathogenic | -2.963 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.912 | likely_pathogenic | 0.9107 | pathogenic | -2.636 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.4405 | ambiguous | 0.4643 | ambiguous | -1.632 | Destabilizing | None | None | None | None | N | 0.490153463 | None | None | N |
| L/W | 0.9469 | likely_pathogenic | 0.9481 | pathogenic | -2.1 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.9568 | likely_pathogenic | 0.9574 | pathogenic | -1.81 | 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.