Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34068 | 102427;102428;102429 | chr2:178534413;178534412;178534411 | chr2:179399140;179399139;179399138 |
| N2AB | 32427 | 97504;97505;97506 | chr2:178534413;178534412;178534411 | chr2:179399140;179399139;179399138 |
| N2A | 31500 | 94723;94724;94725 | chr2:178534413;178534412;178534411 | chr2:179399140;179399139;179399138 |
| N2B | 25003 | 75232;75233;75234 | chr2:178534413;178534412;178534411 | chr2:179399140;179399139;179399138 |
| Novex-1 | 25128 | 75607;75608;75609 | chr2:178534413;178534412;178534411 | chr2:179399140;179399139;179399138 |
| Novex-2 | 25195 | 75808;75809;75810 | chr2:178534413;178534412;178534411 | chr2:179399140;179399139;179399138 |
| 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: 256
- Q(SASA): 0.1292
- 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/R | rs747379775  |
-1.138 | None | N | None | 0.63 | 0.786875594248 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| L/R | rs747379775 |
-1.138 | None | N | None | 0.63 | 0.786875594248 | gnomAD-4.0.0 | 1.59707E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85811E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.6697 | likely_pathogenic | 0.6326 | pathogenic | -2.296 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.8576 | likely_pathogenic | 0.8183 | pathogenic | -1.398 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.976 | likely_pathogenic | 0.9699 | pathogenic | -2.505 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.8102 | likely_pathogenic | 0.7716 | pathogenic | -2.446 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.5333 | ambiguous | 0.4405 | ambiguous | -1.649 | Destabilizing | None | None | None | None | N | 0.478402541 | None | None | N |
| L/G | 0.9074 | likely_pathogenic | 0.8897 | pathogenic | -2.688 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.8124 | likely_pathogenic | 0.7657 | pathogenic | -2.059 | Highly Destabilizing | None | None | None | None | N | 0.499900611 | None | None | N |
| L/I | 0.2271 | likely_benign | 0.1964 | benign | -1.227 | Destabilizing | None | None | None | None | N | 0.474261485 | None | None | N |
| L/K | 0.6347 | likely_pathogenic | 0.5802 | pathogenic | -1.672 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.2724 | likely_benign | 0.2383 | benign | -0.875 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/N | 0.8696 | likely_pathogenic | 0.8469 | pathogenic | -1.615 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9823 | likely_pathogenic | 0.9809 | pathogenic | -1.558 | Destabilizing | None | None | None | None | N | 0.511510406 | None | None | N |
| L/Q | 0.5609 | ambiguous | 0.5009 | ambiguous | -1.753 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/R | 0.6166 | likely_pathogenic | 0.5566 | ambiguous | -1.093 | Destabilizing | None | None | None | None | N | 0.470489276 | None | None | N |
| L/S | 0.7685 | likely_pathogenic | 0.7151 | pathogenic | -2.186 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.6511 | likely_pathogenic | 0.6091 | pathogenic | -2.016 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.2939 | likely_benign | 0.2571 | benign | -1.558 | Destabilizing | None | None | None | None | N | 0.481716996 | None | None | N |
| L/W | 0.7945 | likely_pathogenic | 0.7282 | pathogenic | -1.903 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.8309 | likely_pathogenic | 0.782 | pathogenic | -1.679 | 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.