Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7669 | 23230;23231;23232 | chr2:178721014;178721013;178721012 | chr2:179585741;179585740;179585739 |
| N2AB | 7352 | 22279;22280;22281 | chr2:178721014;178721013;178721012 | chr2:179585741;179585740;179585739 |
| N2A | 6425 | 19498;19499;19500 | chr2:178721014;178721013;178721012 | chr2:179585741;179585740;179585739 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs1060500486  |
-1.074 | 0.302 | N | 0.239 | 0.117 | 0.170165803431 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| N/D | rs1060500486 |
-1.074 | 0.302 | N | 0.239 | 0.117 | 0.170165803431 | gnomAD-4.0.0 | 4.10675E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9981E-07 | 4.63929E-05 | 1.65739E-05 |
| N/S | rs781289417 |
-0.922 | 0.006 | N | 0.077 | 0.114 | 0.0954503805726 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| N/S | rs781289417 |
-0.922 | 0.006 | N | 0.077 | 0.114 | 0.0954503805726 | gnomAD-4.0.0 | 3.42223E-06 | None | None | None | None | N | None | 0 | 2.23654E-05 | None | 0 | 2.51978E-05 | None | 0 | 0 | 1.79959E-06 | 1.15988E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1304 | likely_benign | 0.1527 | benign | -1.095 | Destabilizing | 0.111 | N | 0.253 | neutral | None | None | None | None | N |
| N/C | 0.2061 | likely_benign | 0.238 | benign | -0.395 | Destabilizing | 0.002 | N | 0.195 | neutral | None | None | None | None | N |
| N/D | 0.1201 | likely_benign | 0.1356 | benign | -1.4 | Destabilizing | 0.302 | N | 0.239 | neutral | N | 0.504947436 | None | None | N |
| N/E | 0.1906 | likely_benign | 0.2535 | benign | -1.238 | Destabilizing | 0.365 | N | 0.218 | neutral | None | None | None | None | N |
| N/F | 0.3262 | likely_benign | 0.377 | ambiguous | -0.884 | Destabilizing | 0.582 | D | 0.542 | neutral | None | None | None | None | N |
| N/G | 0.1848 | likely_benign | 0.2011 | benign | -1.462 | Destabilizing | 0.223 | N | 0.236 | neutral | None | None | None | None | N |
| N/H | 0.056 | likely_benign | 0.061 | benign | -1.113 | Destabilizing | 0.958 | D | 0.297 | neutral | N | 0.482361365 | None | None | N |
| N/I | 0.1425 | likely_benign | 0.17 | benign | -0.138 | Destabilizing | None | N | 0.18 | neutral | N | 0.518359451 | None | None | N |
| N/K | 0.1067 | likely_benign | 0.1481 | benign | -0.267 | Destabilizing | 0.178 | N | 0.213 | neutral | N | 0.45334518 | None | None | N |
| N/L | 0.1353 | likely_benign | 0.1495 | benign | -0.138 | Destabilizing | 0.001 | N | 0.176 | neutral | None | None | None | None | N |
| N/M | 0.1946 | likely_benign | 0.2173 | benign | 0.34 | Stabilizing | 0.83 | D | 0.475 | neutral | None | None | None | None | N |
| N/P | 0.3642 | ambiguous | 0.4596 | ambiguous | -0.429 | Destabilizing | 0.738 | D | 0.502 | neutral | None | None | None | None | N |
| N/Q | 0.1429 | likely_benign | 0.1748 | benign | -1.087 | Destabilizing | 0.582 | D | 0.289 | neutral | None | None | None | None | N |
| N/R | 0.1067 | likely_benign | 0.1475 | benign | -0.312 | Destabilizing | 0.002 | N | 0.091 | neutral | None | None | None | None | N |
| N/S | 0.064 | likely_benign | 0.066 | benign | -1.186 | Destabilizing | 0.006 | N | 0.077 | neutral | N | 0.433335267 | None | None | N |
| N/T | 0.0783 | likely_benign | 0.0891 | benign | -0.823 | Destabilizing | 0.178 | N | 0.224 | neutral | N | 0.46839199 | None | None | N |
| N/V | 0.15 | likely_benign | 0.1789 | benign | -0.429 | Destabilizing | 0.111 | N | 0.295 | neutral | None | None | None | None | N |
| N/W | 0.4907 | ambiguous | 0.5403 | ambiguous | -0.663 | Destabilizing | 0.991 | D | 0.427 | neutral | None | None | None | None | N |
| N/Y | 0.0992 | likely_benign | 0.1137 | benign | -0.38 | Destabilizing | 0.68 | D | 0.505 | neutral | D | 0.525016064 | 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.