Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19748 | 59467;59468;59469 | chr2:178592877;178592876;178592875 | chr2:179457604;179457603;179457602 |
| N2AB | 18107 | 54544;54545;54546 | chr2:178592877;178592876;178592875 | chr2:179457604;179457603;179457602 |
| N2A | 17180 | 51763;51764;51765 | chr2:178592877;178592876;178592875 | chr2:179457604;179457603;179457602 |
| N2B | 10683 | 32272;32273;32274 | chr2:178592877;178592876;178592875 | chr2:179457604;179457603;179457602 |
| Novex-1 | 10808 | 32647;32648;32649 | chr2:178592877;178592876;178592875 | chr2:179457604;179457603;179457602 |
| Novex-2 | 10875 | 32848;32849;32850 | chr2:178592877;178592876;178592875 | chr2:179457604;179457603;179457602 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs142791877  |
-0.074 | 0.806 | N | 0.175 | 0.196 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.14E-05 | None | 0 | None | 0 | 3.91E-05 | 0 |
| R/Q | rs142791877 |
-0.074 | 0.806 | N | 0.175 | 0.196 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.94553E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs142791877 |
-0.074 | 0.806 | N | 0.175 | 0.196 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| R/Q | rs142791877 |
-0.074 | 0.806 | N | 0.175 | 0.196 | None | gnomAD-4.0.0 | 1.92142E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.46628E-05 | None | 0 | 0 | 2.11942E-05 | 4.39309E-05 | 0 |
| R/W | rs780429608 |
-0.497 | 0.999 | D | 0.264 | 0.409 | None | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 1.24008E-04 | 0 | None | 0 | 5.14E-05 | None | 0 | None | 0 | 1.56E-05 | 0 |
| R/W | rs780429608 |
-0.497 | 0.999 | D | 0.264 | 0.409 | None | gnomAD-3.1.2 | 7.24E-05 | None | None | None | None | N | None | 2.17339E-04 | 0 | 0 | 0 | 1.94477E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/W | rs780429608 |
-0.497 | 0.999 | D | 0.264 | 0.409 | None | gnomAD-4.0.0 | 1.48761E-05 | None | None | None | None | N | None | 2.00369E-04 | 0 | None | 0 | 4.46409E-05 | None | 0 | 0 | 5.08653E-06 | 0 | 1.60138E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.1792 | likely_benign | 0.141 | benign | 0.036 | Stabilizing | 0.176 | N | 0.175 | neutral | None | None | None | None | N |
| R/C | 0.1359 | likely_benign | 0.1134 | benign | -0.244 | Destabilizing | 0.995 | D | 0.268 | neutral | None | None | None | None | N |
| R/D | 0.3683 | ambiguous | 0.2974 | benign | -0.172 | Destabilizing | 0.003 | N | 0.097 | neutral | None | None | None | None | N |
| R/E | 0.1964 | likely_benign | 0.1577 | benign | -0.079 | Destabilizing | 0.004 | N | 0.14 | neutral | None | None | None | None | N |
| R/F | 0.3431 | ambiguous | 0.2983 | benign | -0.129 | Destabilizing | 0.944 | D | 0.313 | neutral | None | None | None | None | N |
| R/G | 0.1471 | likely_benign | 0.1141 | benign | -0.182 | Destabilizing | 0.653 | D | 0.232 | neutral | D | 0.52625571 | None | None | N |
| R/H | 0.0905 | likely_benign | 0.0824 | benign | -0.81 | Destabilizing | 0.981 | D | 0.297 | neutral | None | None | None | None | N |
| R/I | 0.1355 | likely_benign | 0.1093 | benign | 0.58 | Stabilizing | 0.704 | D | 0.371 | neutral | None | None | None | None | N |
| R/K | 0.0787 | likely_benign | 0.0699 | benign | -0.066 | Destabilizing | 0.3 | N | 0.129 | neutral | None | None | None | None | N |
| R/L | 0.125 | likely_benign | 0.1068 | benign | 0.58 | Stabilizing | 0.485 | N | 0.251 | neutral | N | 0.460396077 | None | None | N |
| R/M | 0.1417 | likely_benign | 0.1129 | benign | -0.03 | Destabilizing | 0.981 | D | 0.307 | neutral | None | None | None | None | N |
| R/N | 0.2984 | likely_benign | 0.2378 | benign | -0.012 | Destabilizing | 0.495 | N | 0.165 | neutral | None | None | None | None | N |
| R/P | 0.2872 | likely_benign | 0.2539 | benign | 0.42 | Stabilizing | 0.902 | D | 0.365 | neutral | N | 0.436732571 | None | None | N |
| R/Q | 0.0812 | likely_benign | 0.0731 | benign | -0.005 | Destabilizing | 0.806 | D | 0.175 | neutral | N | 0.443349112 | None | None | N |
| R/S | 0.2276 | likely_benign | 0.1735 | benign | -0.285 | Destabilizing | 0.176 | N | 0.217 | neutral | None | None | None | None | N |
| R/T | 0.1058 | likely_benign | 0.0832 | benign | -0.042 | Destabilizing | 0.004 | N | 0.109 | neutral | None | None | None | None | N |
| R/V | 0.1699 | likely_benign | 0.1378 | benign | 0.42 | Stabilizing | 0.329 | N | 0.273 | neutral | None | None | None | None | N |
| R/W | 0.1399 | likely_benign | 0.1266 | benign | -0.226 | Destabilizing | 0.999 | D | 0.264 | neutral | D | 0.526775785 | None | None | N |
| R/Y | 0.2599 | likely_benign | 0.2314 | benign | 0.192 | Stabilizing | 0.981 | D | 0.321 | 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.