Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33979 | 102160;102161;102162 | chr2:178534680;178534679;178534678 | chr2:179399407;179399406;179399405 |
| N2AB | 32338 | 97237;97238;97239 | chr2:178534680;178534679;178534678 | chr2:179399407;179399406;179399405 |
| N2A | 31411 | 94456;94457;94458 | chr2:178534680;178534679;178534678 | chr2:179399407;179399406;179399405 |
| N2B | 24914 | 74965;74966;74967 | chr2:178534680;178534679;178534678 | chr2:179399407;179399406;179399405 |
| Novex-1 | 25039 | 75340;75341;75342 | chr2:178534680;178534679;178534678 | chr2:179399407;179399406;179399405 |
| Novex-2 | 25106 | 75541;75542;75543 | chr2:178534680;178534679;178534678 | chr2:179399407;179399406;179399405 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: P
- RefSeq wild type transcript codon: CCA
- RefSeq wild type template codon: GGT
- Domain: Kinase-1
- Domain position: 167
- Q(SASA): 0.1504
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | rs200238877  |
-1.288 | None | N | None | 0.428 | None | gnomAD-2.1.1 | 2.99908E-04 | None | None | None | None | N | None | 3.39067E-03 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.40449E-04 |
| P/R | rs200238877 |
-1.288 | None | N | None | 0.428 | None | gnomAD-3.1.2 | 8.67451E-04 | None | None | None | None | N | None | 3.06615E-03 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.91022E-03 |
| P/R | rs200238877 |
-1.288 | None | N | None | 0.428 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 3.8E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/R | rs200238877 |
-1.288 | None | N | None | 0.428 | None | gnomAD-4.0.0 | 1.67309E-04 | None | None | None | None | N | None | 3.37297E-03 | 3.33333E-05 | None | 0 | 0 | None | 0 | 0 | 1.69523E-06 | 0 | 2.0806E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2952 | likely_benign | 0.3311 | benign | -1.931 | Destabilizing | None | None | None | None | N | 0.496039085 | None | None | N |
| P/C | 0.9435 | likely_pathogenic | 0.9573 | pathogenic | -1.139 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/D | 0.9074 | likely_pathogenic | 0.9403 | pathogenic | -2.852 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/E | 0.804 | likely_pathogenic | 0.8634 | pathogenic | -2.573 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/F | 0.9701 | likely_pathogenic | 0.9783 | pathogenic | -1.199 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/G | 0.7917 | likely_pathogenic | 0.8515 | pathogenic | -2.485 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/H | 0.8063 | likely_pathogenic | 0.8579 | pathogenic | -2.351 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/I | 0.9198 | likely_pathogenic | 0.9347 | pathogenic | -0.349 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/K | 0.8511 | likely_pathogenic | 0.8876 | pathogenic | -1.626 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/L | 0.6854 | likely_pathogenic | 0.7217 | pathogenic | -0.349 | Destabilizing | None | None | None | None | N | 0.463137233 | None | None | N |
| P/M | 0.885 | likely_pathogenic | 0.9098 | pathogenic | -0.29 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/N | 0.8818 | likely_pathogenic | 0.9222 | pathogenic | -2.166 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Q | 0.6725 | likely_pathogenic | 0.7567 | pathogenic | -1.905 | Destabilizing | None | None | None | None | N | 0.473296752 | None | None | N |
| P/R | 0.7299 | likely_pathogenic | 0.6232 | pathogenic | -1.652 | Destabilizing | None | None | None | None | N | 0.492729421 | None | None | N |
| P/S | 0.4964 | ambiguous | 0.5662 | pathogenic | -2.68 | Highly Destabilizing | None | None | None | None | N | 0.459952211 | None | None | N |
| P/T | 0.5376 | ambiguous | 0.604 | pathogenic | -2.253 | Highly Destabilizing | None | None | None | None | N | 0.503735849 | None | None | N |
| P/V | 0.7925 | likely_pathogenic | 0.827 | pathogenic | -0.855 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/W | 0.9827 | likely_pathogenic | 0.9882 | pathogenic | -1.796 | Destabilizing | None | None | None | None | None | None | None | None | N |
| P/Y | 0.9579 | likely_pathogenic | 0.9713 | pathogenic | -1.341 | 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.