Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29587 | 88984;88985;88986 | chr2:178554588;178554587;178554586 | chr2:179419315;179419314;179419313 |
| N2AB | 27946 | 84061;84062;84063 | chr2:178554588;178554587;178554586 | chr2:179419315;179419314;179419313 |
| N2A | 27019 | 81280;81281;81282 | chr2:178554588;178554587;178554586 | chr2:179419315;179419314;179419313 |
| N2B | 20522 | 61789;61790;61791 | chr2:178554588;178554587;178554586 | chr2:179419315;179419314;179419313 |
| Novex-1 | 20647 | 62164;62165;62166 | chr2:178554588;178554587;178554586 | chr2:179419315;179419314;179419313 |
| Novex-2 | 20714 | 62365;62366;62367 | chr2:178554588;178554587;178554586 | chr2:179419315;179419314;179419313 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/L | None | None | 0.006 | N | 0.28 | 0.171 | 0.390060412749 | gnomAD-4.0.0 | 6.84167E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99423E-07 | 0 | 0 |
| H/R | rs373905959  |
-0.214 | 0.001 | N | 0.103 | 0.13 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 1.29149E-04 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/R | rs373905959 |
-0.214 | 0.001 | N | 0.103 | 0.13 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs373905959 |
-0.214 | 0.001 | N | 0.103 | 0.13 | None | gnomAD-4.0.0 | 3.09828E-06 | None | None | None | None | I | None | 5.33946E-05 | 1.66689E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | None | None | 0.081 | N | 0.243 | 0.052 | 0.154104182512 | gnomAD-4.0.0 | 1.59102E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85776E-06 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.1401 | likely_benign | 0.1403 | benign | 0.176 | Stabilizing | 0.004 | N | 0.19 | neutral | None | None | None | None | I |
| H/C | 0.1433 | likely_benign | 0.1476 | benign | 0.894 | Stabilizing | 0.497 | N | 0.268 | neutral | None | None | None | None | I |
| H/D | 0.1096 | likely_benign | 0.1171 | benign | -0.147 | Destabilizing | 0.001 | N | 0.177 | neutral | N | 0.393629581 | None | None | I |
| H/E | 0.1544 | likely_benign | 0.1485 | benign | -0.091 | Destabilizing | None | N | 0.067 | neutral | None | None | None | None | I |
| H/F | 0.2264 | likely_benign | 0.2483 | benign | 1.084 | Stabilizing | 0.22 | N | 0.329 | neutral | None | None | None | None | I |
| H/G | 0.1803 | likely_benign | 0.1933 | benign | -0.155 | Destabilizing | 0.002 | N | 0.209 | neutral | None | None | None | None | I |
| H/I | 0.1777 | likely_benign | 0.1875 | benign | 1.05 | Stabilizing | 0.085 | N | 0.387 | neutral | None | None | None | None | I |
| H/K | 0.1149 | likely_benign | 0.1051 | benign | 0.241 | Stabilizing | None | N | 0.081 | neutral | None | None | None | None | I |
| H/L | 0.0965 | likely_benign | 0.1 | benign | 1.05 | Stabilizing | 0.006 | N | 0.28 | neutral | N | 0.451293804 | None | None | I |
| H/M | 0.2434 | likely_benign | 0.2458 | benign | 0.818 | Stabilizing | 0.497 | N | 0.309 | neutral | None | None | None | None | I |
| H/N | 0.0483 | likely_benign | 0.0515 | benign | 0.235 | Stabilizing | None | N | 0.073 | neutral | N | 0.406137518 | None | None | I |
| H/P | 0.2216 | likely_benign | 0.2332 | benign | 0.784 | Stabilizing | 0.028 | N | 0.233 | neutral | N | 0.440303233 | None | None | I |
| H/Q | 0.0995 | likely_benign | 0.0976 | benign | 0.399 | Stabilizing | 0.006 | N | 0.125 | neutral | N | 0.465569824 | None | None | I |
| H/R | 0.0864 | likely_benign | 0.0799 | benign | -0.473 | Destabilizing | 0.001 | N | 0.103 | neutral | N | 0.437479145 | None | None | I |
| H/S | 0.1109 | likely_benign | 0.1166 | benign | 0.396 | Stabilizing | 0.002 | N | 0.163 | neutral | None | None | None | None | I |
| H/T | 0.104 | likely_benign | 0.1046 | benign | 0.552 | Stabilizing | 0.004 | N | 0.221 | neutral | None | None | None | None | I |
| H/V | 0.1393 | likely_benign | 0.1448 | benign | 0.784 | Stabilizing | 0.037 | N | 0.257 | neutral | None | None | None | None | I |
| H/W | 0.4056 | ambiguous | 0.418 | ambiguous | 1.149 | Stabilizing | 0.497 | N | 0.253 | neutral | None | None | None | None | I |
| H/Y | 0.0866 | likely_benign | 0.094 | benign | 1.366 | Stabilizing | 0.081 | N | 0.243 | neutral | N | 0.461241439 | None | None | I |
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.