Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18597 | 56014;56015;56016 | chr2:178601115;178601114;178601113 | chr2:179465842;179465841;179465840 |
| N2AB | 16956 | 51091;51092;51093 | chr2:178601115;178601114;178601113 | chr2:179465842;179465841;179465840 |
| N2A | 16029 | 48310;48311;48312 | chr2:178601115;178601114;178601113 | chr2:179465842;179465841;179465840 |
| N2B | 9532 | 28819;28820;28821 | chr2:178601115;178601114;178601113 | chr2:179465842;179465841;179465840 |
| Novex-1 | 9657 | 29194;29195;29196 | chr2:178601115;178601114;178601113 | chr2:179465842;179465841;179465840 |
| Novex-2 | 9724 | 29395;29396;29397 | chr2:178601115;178601114;178601113 | chr2:179465842;179465841;179465840 |
| 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/P | None | -0.813 | 0.094 | N | 0.484 | 0.302 | 0.341460817117 | gnomAD-2.1.1 | 4.41E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.86081E-04 |
| H/P | None | -0.813 | 0.094 | N | 0.484 | 0.302 | 0.341460817117 | gnomAD-4.0.0 | 1.65553E-06 | None | None | None | None | N | None | 0 | 2.45821E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | None | None | 0.049 | N | 0.373 | 0.128 | 0.0551355673512 | gnomAD-4.0.0 | 6.94644E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.07947E-07 | 0 | 0 |
| H/R | rs748143013  |
-1.214 | 0.025 | N | 0.316 | 0.195 | 0.154104182512 | gnomAD-2.1.1 | 8.82E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.15101E-04 | None | 0 | None | 0 | 0 | 0 |
| H/R | rs748143013 |
-1.214 | 0.025 | N | 0.316 | 0.195 | 0.154104182512 | gnomAD-4.0.0 | 3.31106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59879E-05 | None | 0 | 0 | 0 | 0 | 0 |
| H/Y | rs1285092776 |
0.473 | 0.202 | N | 0.43 | 0.101 | 0.235664433957 | gnomAD-2.1.1 | 4.41E-06 | None | None | None | None | N | None | 0 | 3.16E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/Y | rs1285092776 |
0.473 | 0.202 | N | 0.43 | 0.101 | 0.235664433957 | gnomAD-4.0.0 | 4.96806E-06 | None | None | None | None | N | None | 5.96872E-05 | 2.46002E-05 | None | 0 | 0 | None | 0 | 0 | 2.95534E-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 | 0.1905 | likely_benign | 0.1489 | benign | -1.204 | Destabilizing | None | N | 0.301 | neutral | None | None | None | None | N |
| H/C | 0.1623 | likely_benign | 0.1436 | benign | -0.605 | Destabilizing | 0.54 | D | 0.519 | neutral | None | None | None | None | N |
| H/D | 0.2198 | likely_benign | 0.1767 | benign | -0.548 | Destabilizing | 0.049 | N | 0.336 | neutral | N | 0.39551788 | None | None | N |
| H/E | 0.2761 | likely_benign | 0.2319 | benign | -0.458 | Destabilizing | 0.015 | N | 0.303 | neutral | None | None | None | None | N |
| H/F | 0.2694 | likely_benign | 0.2545 | benign | -0.267 | Destabilizing | 0.251 | N | 0.463 | neutral | None | None | None | None | N |
| H/G | 0.2775 | likely_benign | 0.2072 | benign | -1.534 | Destabilizing | 0.015 | N | 0.355 | neutral | None | None | None | None | N |
| H/I | 0.2403 | likely_benign | 0.2111 | benign | -0.295 | Destabilizing | 0.142 | N | 0.548 | neutral | None | None | None | None | N |
| H/K | 0.2281 | likely_benign | 0.1891 | benign | -1.02 | Destabilizing | 0.001 | N | 0.199 | neutral | None | None | None | None | N |
| H/L | 0.1196 | likely_benign | 0.104 | benign | -0.295 | Destabilizing | 0.022 | N | 0.357 | neutral | N | 0.386935682 | None | None | N |
| H/M | 0.3239 | likely_benign | 0.298 | benign | -0.44 | Destabilizing | 0.781 | D | 0.523 | neutral | None | None | None | None | N |
| H/N | 0.0907 | likely_benign | 0.0774 | benign | -0.977 | Destabilizing | 0.025 | N | 0.333 | neutral | N | 0.382241938 | None | None | N |
| H/P | 0.5346 | ambiguous | 0.4317 | ambiguous | -0.579 | Destabilizing | 0.094 | N | 0.484 | neutral | N | 0.451891237 | None | None | N |
| H/Q | 0.1477 | likely_benign | 0.1208 | benign | -0.796 | Destabilizing | 0.049 | N | 0.373 | neutral | N | 0.37571861 | None | None | N |
| H/R | 0.123 | likely_benign | 0.1019 | benign | -1.163 | Destabilizing | 0.025 | N | 0.316 | neutral | N | 0.367715203 | None | None | N |
| H/S | 0.1282 | likely_benign | 0.1029 | benign | -1.211 | Destabilizing | None | N | 0.191 | neutral | None | None | None | None | N |
| H/T | 0.1409 | likely_benign | 0.1151 | benign | -1.026 | Destabilizing | None | N | 0.295 | neutral | None | None | None | None | N |
| H/V | 0.1913 | likely_benign | 0.1658 | benign | -0.579 | Destabilizing | 0.033 | N | 0.363 | neutral | None | None | None | None | N |
| H/W | 0.4189 | ambiguous | 0.409 | ambiguous | 0.063 | Stabilizing | 0.931 | D | 0.536 | neutral | None | None | None | None | N |
| H/Y | 0.1067 | likely_benign | 0.0996 | benign | 0.241 | Stabilizing | 0.202 | N | 0.43 | neutral | N | 0.416701228 | 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.