Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33933 | 102022;102023;102024 | chr2:178534818;178534817;178534816 | chr2:179399545;179399544;179399543 |
| N2AB | 32292 | 97099;97100;97101 | chr2:178534818;178534817;178534816 | chr2:179399545;179399544;179399543 |
| N2A | 31365 | 94318;94319;94320 | chr2:178534818;178534817;178534816 | chr2:179399545;179399544;179399543 |
| N2B | 24868 | 74827;74828;74829 | chr2:178534818;178534817;178534816 | chr2:179399545;179399544;179399543 |
| Novex-1 | 24993 | 75202;75203;75204 | chr2:178534818;178534817;178534816 | chr2:179399545;179399544;179399543 |
| Novex-2 | 25060 | 75403;75404;75405 | chr2:178534818;178534817;178534816 | chr2:179399545;179399544;179399543 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAT
- RefSeq wild type template codon: GTA
- Domain: Kinase-1
- Domain position: 121
- Q(SASA): 0.3919
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/N | None | None | None | N | None | 0.192 | 0.190952846119 | gnomAD-4.0.0 | 1.59916E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43357E-05 | 0 |
| H/Q | rs757788117  |
-0.328 | None | N | None | 0.129 | 0.0716867268079 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 6.52E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Q | rs757788117 |
-0.328 | None | N | None | 0.129 | 0.0716867268079 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | rs757788117 |
-0.328 | None | N | None | 0.129 | 0.0716867268079 | gnomAD-4.0.0 | 6.56953E-06 | None | None | None | None | N | None | 2.41208E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs778857510 |
-0.729 | None | N | None | 0.167 | 0.184867976434 | gnomAD-2.1.1 | 2.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.96194E-04 | None | 0 | 0 | 0 |
| H/R | rs778857510 |
-0.729 | None | N | None | 0.167 | 0.184867976434 | gnomAD-4.0.0 | 1.16545E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99457E-07 | 1.8549E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.5916 | likely_pathogenic | 0.4534 | ambiguous | -0.565 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.2907 | likely_benign | 0.2309 | benign | 0.129 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.6212 | likely_pathogenic | 0.5101 | ambiguous | -0.446 | Destabilizing | None | None | None | None | N | 0.489234274 | None | None | N |
| H/E | 0.4282 | ambiguous | 0.3192 | benign | -0.334 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.6259 | likely_pathogenic | 0.57 | pathogenic | 0.71 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.6621 | likely_pathogenic | 0.5249 | ambiguous | -0.95 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.7065 | likely_pathogenic | 0.5982 | pathogenic | 0.499 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.2784 | likely_benign | 0.1984 | benign | -0.271 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.3247 | likely_benign | 0.2551 | benign | 0.499 | Stabilizing | None | None | None | None | N | 0.441512033 | None | None | N |
| H/M | 0.6916 | likely_pathogenic | 0.5947 | pathogenic | 0.252 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.1806 | likely_benign | 0.1422 | benign | -0.543 | Destabilizing | None | None | None | None | N | 0.425945148 | None | None | N |
| H/P | 0.8609 | likely_pathogenic | 0.7939 | pathogenic | 0.166 | Stabilizing | None | None | None | None | D | 0.522474404 | None | None | N |
| H/Q | 0.2369 | likely_benign | 0.1638 | benign | -0.285 | Destabilizing | None | None | None | None | N | 0.4273693 | None | None | N |
| H/R | 0.1543 | likely_benign | 0.1142 | benign | -0.844 | Destabilizing | None | None | None | None | N | 0.3846186 | None | None | N |
| H/S | 0.4621 | ambiguous | 0.3556 | ambiguous | -0.564 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.6157 | likely_pathogenic | 0.481 | ambiguous | -0.328 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.6117 | likely_pathogenic | 0.489 | ambiguous | 0.166 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.6468 | likely_pathogenic | 0.5808 | pathogenic | 1.021 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.2223 | likely_benign | 0.1965 | benign | 1.08 | Stabilizing | None | None | None | None | N | 0.499578902 | 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.