Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20184 | 60775;60776;60777 | chr2:178591175;178591174;178591173 | chr2:179455902;179455901;179455900 |
| N2AB | 18543 | 55852;55853;55854 | chr2:178591175;178591174;178591173 | chr2:179455902;179455901;179455900 |
| N2A | 17616 | 53071;53072;53073 | chr2:178591175;178591174;178591173 | chr2:179455902;179455901;179455900 |
| N2B | 11119 | 33580;33581;33582 | chr2:178591175;178591174;178591173 | chr2:179455902;179455901;179455900 |
| Novex-1 | 11244 | 33955;33956;33957 | chr2:178591175;178591174;178591173 | chr2:179455902;179455901;179455900 |
| Novex-2 | 11311 | 34156;34157;34158 | chr2:178591175;178591174;178591173 | chr2:179455902;179455901;179455900 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/I | rs564621227  |
-0.667 | 0.002 | N | 0.179 | 0.085 | 0.291694819147 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| V/I | rs564621227 |
-0.667 | 0.002 | N | 0.179 | 0.085 | 0.291694819147 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| V/I | rs564621227 |
-0.667 | 0.002 | N | 0.179 | 0.085 | 0.291694819147 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| V/I | rs564621227 |
-0.667 | 0.002 | N | 0.179 | 0.085 | 0.291694819147 | gnomAD-4.0.0 | 4.33883E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.68017E-05 | 0 | 4.80338E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3891 | ambiguous | 0.4704 | ambiguous | -1.506 | Destabilizing | 0.334 | N | 0.432 | neutral | N | 0.473436381 | None | None | N |
| V/C | 0.8071 | likely_pathogenic | 0.8301 | pathogenic | -1.063 | Destabilizing | 0.982 | D | 0.706 | prob.neutral | None | None | None | None | N |
| V/D | 0.7548 | likely_pathogenic | 0.8506 | pathogenic | -2.509 | Highly Destabilizing | 0.781 | D | 0.816 | deleterious | D | 0.530649208 | None | None | N |
| V/E | 0.6191 | likely_pathogenic | 0.6997 | pathogenic | -2.479 | Highly Destabilizing | 0.826 | D | 0.774 | deleterious | None | None | None | None | N |
| V/F | 0.4151 | ambiguous | 0.4723 | ambiguous | -1.158 | Destabilizing | 0.638 | D | 0.742 | deleterious | N | 0.499987333 | None | None | N |
| V/G | 0.5534 | ambiguous | 0.6247 | pathogenic | -1.843 | Destabilizing | 0.781 | D | 0.804 | deleterious | N | 0.513723495 | None | None | N |
| V/H | 0.8704 | likely_pathogenic | 0.9089 | pathogenic | -1.665 | Destabilizing | 0.982 | D | 0.797 | deleterious | None | None | None | None | N |
| V/I | 0.0717 | likely_benign | 0.0725 | benign | -0.644 | Destabilizing | 0.002 | N | 0.179 | neutral | N | 0.464012386 | None | None | N |
| V/K | 0.6767 | likely_pathogenic | 0.741 | pathogenic | -1.278 | Destabilizing | 0.826 | D | 0.775 | deleterious | None | None | None | None | N |
| V/L | 0.3901 | ambiguous | 0.4215 | ambiguous | -0.644 | Destabilizing | 0.034 | N | 0.327 | neutral | N | 0.513691844 | None | None | N |
| V/M | 0.2093 | likely_benign | 0.2234 | benign | -0.47 | Destabilizing | 0.7 | D | 0.651 | neutral | None | None | None | None | N |
| V/N | 0.6236 | likely_pathogenic | 0.7344 | pathogenic | -1.242 | Destabilizing | 0.935 | D | 0.81 | deleterious | None | None | None | None | N |
| V/P | 0.9209 | likely_pathogenic | 0.9361 | pathogenic | -0.901 | Destabilizing | 0.935 | D | 0.793 | deleterious | None | None | None | None | N |
| V/Q | 0.647 | likely_pathogenic | 0.7088 | pathogenic | -1.384 | Destabilizing | 0.935 | D | 0.785 | deleterious | None | None | None | None | N |
| V/R | 0.6328 | likely_pathogenic | 0.7146 | pathogenic | -0.872 | Destabilizing | 0.826 | D | 0.809 | deleterious | None | None | None | None | N |
| V/S | 0.5063 | ambiguous | 0.6111 | pathogenic | -1.589 | Destabilizing | 0.826 | D | 0.769 | deleterious | None | None | None | None | N |
| V/T | 0.337 | likely_benign | 0.409 | ambiguous | -1.467 | Destabilizing | 0.399 | N | 0.54 | neutral | None | None | None | None | N |
| V/W | 0.9548 | likely_pathogenic | 0.9664 | pathogenic | -1.57 | Destabilizing | 0.982 | D | 0.801 | deleterious | None | None | None | None | N |
| V/Y | 0.8061 | likely_pathogenic | 0.8563 | pathogenic | -1.239 | Destabilizing | 0.826 | D | 0.758 | deleterious | 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.