Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33877 | 101854;101855;101856 | chr2:178534986;178534985;178534984 | chr2:179399713;179399712;179399711 |
| N2AB | 32236 | 96931;96932;96933 | chr2:178534986;178534985;178534984 | chr2:179399713;179399712;179399711 |
| N2A | 31309 | 94150;94151;94152 | chr2:178534986;178534985;178534984 | chr2:179399713;179399712;179399711 |
| N2B | 24812 | 74659;74660;74661 | chr2:178534986;178534985;178534984 | chr2:179399713;179399712;179399711 |
| Novex-1 | 24937 | 75034;75035;75036 | chr2:178534986;178534985;178534984 | chr2:179399713;179399712;179399711 |
| Novex-2 | 25004 | 75235;75236;75237 | chr2:178534986;178534985;178534984 | chr2:179399713;179399712;179399711 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: H
- RefSeq wild type transcript codon: CAC
- RefSeq wild type template codon: GTG
- Domain: Kinase-1
- Domain position: 65
- Q(SASA): 0.2573
- 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 | rs1690786587  |
None | None | N | None | 0.141 | 0.0846915920261 | gnomAD-4.0.0 | 6.84306E-07 | None | None | None | None | N | None | 2.98829E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | rs755256603 |
-0.688 | None | N | None | 0.051 | 0.0884992946249 | 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 |
| H/Q | rs755256603 |
-0.688 | None | N | None | 0.051 | 0.0884992946249 | gnomAD-4.0.0 | 6.84314E-07 | None | None | None | None | N | None | 2.98811E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs1690786587 |
None | None | N | None | 0.1 | 0.117506650769 | gnomAD-4.0.0 | 6.84306E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99449E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.2572 | likely_benign | 0.3663 | ambiguous | -1.017 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.0902 | likely_benign | 0.1494 | benign | -0.047 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.2671 | likely_benign | 0.3666 | ambiguous | -0.96 | Destabilizing | None | None | None | None | N | 0.44841571 | None | None | N |
| H/E | 0.3392 | likely_benign | 0.4003 | ambiguous | -0.818 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.1344 | likely_benign | 0.1746 | benign | 0.65 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.3033 | likely_benign | 0.414 | ambiguous | -1.425 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.3162 | likely_benign | 0.3976 | ambiguous | 0.148 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.2878 | likely_benign | 0.339 | benign | -0.702 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.1278 | likely_benign | 0.1508 | benign | 0.148 | Stabilizing | None | None | None | None | N | 0.4782959 | None | None | N |
| H/M | 0.4111 | ambiguous | 0.5053 | ambiguous | -0.023 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.1244 | likely_benign | 0.1733 | benign | -0.988 | Destabilizing | None | None | None | None | N | 0.393485147 | None | None | N |
| H/P | 0.3185 | likely_benign | 0.3913 | ambiguous | -0.223 | Destabilizing | None | None | None | None | N | 0.451552016 | None | None | N |
| H/Q | 0.1912 | likely_benign | 0.2329 | benign | -0.664 | Destabilizing | None | None | None | None | N | 0.368088057 | None | None | N |
| H/R | 0.1445 | likely_benign | 0.1738 | benign | -1.313 | Destabilizing | None | None | None | None | N | 0.372645728 | None | None | N |
| H/S | 0.1694 | likely_benign | 0.2532 | benign | -0.944 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.2829 | likely_benign | 0.3897 | ambiguous | -0.692 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.2429 | likely_benign | 0.3213 | benign | -0.223 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.2589 | likely_benign | 0.2979 | benign | 1.06 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.0405 | likely_benign | 0.0547 | benign | 0.978 | Stabilizing | None | None | None | None | N | 0.439316224 | 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.