Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25985 | 78178;78179;78180 | chr2:178568179;178568178;178568177 | chr2:179432906;179432905;179432904 |
| N2AB | 24344 | 73255;73256;73257 | chr2:178568179;178568178;178568177 | chr2:179432906;179432905;179432904 |
| N2A | 23417 | 70474;70475;70476 | chr2:178568179;178568178;178568177 | chr2:179432906;179432905;179432904 |
| N2B | 16920 | 50983;50984;50985 | chr2:178568179;178568178;178568177 | chr2:179432906;179432905;179432904 |
| Novex-1 | 17045 | 51358;51359;51360 | chr2:178568179;178568178;178568177 | chr2:179432906;179432905;179432904 |
| Novex-2 | 17112 | 51559;51560;51561 | chr2:178568179;178568178;178568177 | chr2:179432906;179432905;179432904 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/P | rs552211406  |
-0.226 | 0.956 | N | 0.415 | 0.375 | 0.28722502521 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| Q/P | rs552211406 |
-0.226 | 0.956 | N | 0.415 | 0.375 | 0.28722502521 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.1425E-04 | 0 |
| Q/P | rs552211406 |
-0.226 | 0.956 | N | 0.415 | 0.375 | 0.28722502521 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| Q/P | rs552211406 |
-0.226 | 0.956 | N | 0.415 | 0.375 | 0.28722502521 | gnomAD-4.0.0 | 1.17755E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54332E-06 | 1.64701E-04 | 1.60087E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2263 | likely_benign | 0.243 | benign | -0.604 | Destabilizing | 0.355 | N | 0.303 | neutral | None | None | None | None | N |
| Q/C | 0.5091 | ambiguous | 0.5478 | ambiguous | 0.017 | Stabilizing | 0.991 | D | 0.629 | neutral | None | None | None | None | N |
| Q/D | 0.6013 | likely_pathogenic | 0.6431 | pathogenic | -0.143 | Destabilizing | 0.4 | N | 0.309 | neutral | None | None | None | None | N |
| Q/E | 0.1029 | likely_benign | 0.1066 | benign | -0.087 | Destabilizing | 0.013 | N | 0.245 | neutral | N | 0.494465792 | None | None | N |
| Q/F | 0.7619 | likely_pathogenic | 0.8096 | pathogenic | -0.444 | Destabilizing | 0.966 | D | 0.532 | neutral | None | None | None | None | N |
| Q/G | 0.3863 | ambiguous | 0.4175 | ambiguous | -0.911 | Destabilizing | 0.571 | D | 0.411 | neutral | None | None | None | None | N |
| Q/H | 0.2726 | likely_benign | 0.3142 | benign | -0.761 | Destabilizing | 0.877 | D | 0.245 | neutral | N | 0.498672844 | None | None | N |
| Q/I | 0.396 | ambiguous | 0.4582 | ambiguous | 0.156 | Stabilizing | 0.905 | D | 0.64 | neutral | None | None | None | None | N |
| Q/K | 0.1012 | likely_benign | 0.1099 | benign | -0.167 | Destabilizing | 0.172 | N | 0.396 | neutral | N | 0.513992915 | None | None | N |
| Q/L | 0.1804 | likely_benign | 0.2059 | benign | 0.156 | Stabilizing | 0.501 | D | 0.476 | neutral | N | 0.496644927 | None | None | N |
| Q/M | 0.386 | ambiguous | 0.4047 | ambiguous | 0.55 | Stabilizing | 0.966 | D | 0.241 | neutral | None | None | None | None | N |
| Q/N | 0.3937 | ambiguous | 0.4245 | ambiguous | -0.665 | Destabilizing | 0.571 | D | 0.377 | neutral | None | None | None | None | N |
| Q/P | 0.8899 | likely_pathogenic | 0.918 | pathogenic | -0.067 | Destabilizing | 0.956 | D | 0.415 | neutral | N | 0.498672844 | None | None | N |
| Q/R | 0.1065 | likely_benign | 0.1217 | benign | -0.083 | Destabilizing | 0.001 | N | 0.148 | neutral | N | 0.51243269 | None | None | N |
| Q/S | 0.2868 | likely_benign | 0.3145 | benign | -0.758 | Destabilizing | 0.571 | D | 0.319 | neutral | None | None | None | None | N |
| Q/T | 0.2152 | likely_benign | 0.2377 | benign | -0.51 | Destabilizing | 0.571 | D | 0.425 | neutral | None | None | None | None | N |
| Q/V | 0.2357 | likely_benign | 0.2732 | benign | -0.067 | Destabilizing | 0.905 | D | 0.515 | neutral | None | None | None | None | N |
| Q/W | 0.6953 | likely_pathogenic | 0.7858 | pathogenic | -0.297 | Destabilizing | 0.991 | D | 0.581 | neutral | None | None | None | None | N |
| Q/Y | 0.5501 | ambiguous | 0.6228 | pathogenic | -0.086 | Destabilizing | 0.966 | D | 0.339 | neutral | 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.