Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20462 | 61609;61610;61611 | chr2:178590341;178590340;178590339 | chr2:179455068;179455067;179455066 |
| N2AB | 18821 | 56686;56687;56688 | chr2:178590341;178590340;178590339 | chr2:179455068;179455067;179455066 |
| N2A | 17894 | 53905;53906;53907 | chr2:178590341;178590340;178590339 | chr2:179455068;179455067;179455066 |
| N2B | 11397 | 34414;34415;34416 | chr2:178590341;178590340;178590339 | chr2:179455068;179455067;179455066 |
| Novex-1 | 11522 | 34789;34790;34791 | chr2:178590341;178590340;178590339 | chr2:179455068;179455067;179455066 |
| Novex-2 | 11589 | 34990;34991;34992 | chr2:178590341;178590340;178590339 | chr2:179455068;179455067;179455066 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1461584789  |
-0.415 | 0.361 | N | 0.272 | 0.101 | 0.18274738541 | gnomAD-2.1.1 | 4.68E-06 | None | None | None | None | I | None | 6.64E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs1461584789 |
-0.415 | 0.361 | N | 0.272 | 0.101 | 0.18274738541 | gnomAD-4.0.0 | 6.81006E-06 | None | None | None | None | I | None | 1.21788E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.4E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4868 | ambiguous | 0.4458 | ambiguous | -0.983 | Destabilizing | 0.984 | D | 0.355 | neutral | None | None | None | None | I |
| A/D | 0.3558 | ambiguous | 0.2919 | benign | -0.607 | Destabilizing | 0.428 | N | 0.417 | neutral | None | None | None | None | I |
| A/E | 0.3138 | likely_benign | 0.2522 | benign | -0.749 | Destabilizing | 0.361 | N | 0.317 | neutral | N | 0.464326525 | None | None | I |
| A/F | 0.4523 | ambiguous | 0.4214 | ambiguous | -0.958 | Destabilizing | 0.942 | D | 0.448 | neutral | None | None | None | None | I |
| A/G | 0.1434 | likely_benign | 0.1257 | benign | -0.344 | Destabilizing | 0.189 | N | 0.265 | neutral | N | 0.463979808 | None | None | I |
| A/H | 0.4793 | ambiguous | 0.4288 | ambiguous | -0.272 | Destabilizing | 0.984 | D | 0.415 | neutral | None | None | None | None | I |
| A/I | 0.311 | likely_benign | 0.2774 | benign | -0.501 | Destabilizing | 0.842 | D | 0.459 | neutral | None | None | None | None | I |
| A/K | 0.527 | ambiguous | 0.4485 | ambiguous | -0.69 | Destabilizing | 0.428 | N | 0.32 | neutral | None | None | None | None | I |
| A/L | 0.1757 | likely_benign | 0.1568 | benign | -0.501 | Destabilizing | 0.428 | N | 0.353 | neutral | None | None | None | None | I |
| A/M | 0.2677 | likely_benign | 0.2456 | benign | -0.725 | Destabilizing | 0.984 | D | 0.353 | neutral | None | None | None | None | I |
| A/N | 0.256 | likely_benign | 0.2221 | benign | -0.435 | Destabilizing | 0.842 | D | 0.475 | neutral | None | None | None | None | I |
| A/P | 0.0984 | likely_benign | 0.0808 | benign | -0.422 | Destabilizing | None | N | 0.145 | neutral | N | 0.35281196 | None | None | I |
| A/Q | 0.309 | likely_benign | 0.2609 | benign | -0.68 | Destabilizing | 0.842 | D | 0.463 | neutral | None | None | None | None | I |
| A/R | 0.4758 | ambiguous | 0.401 | ambiguous | -0.251 | Destabilizing | 0.842 | D | 0.447 | neutral | None | None | None | None | I |
| A/S | 0.0939 | likely_benign | 0.0889 | benign | -0.62 | Destabilizing | 0.189 | N | 0.366 | neutral | N | 0.355259541 | None | None | I |
| A/T | 0.098 | likely_benign | 0.0882 | benign | -0.689 | Destabilizing | 0.361 | N | 0.272 | neutral | N | 0.394965227 | None | None | I |
| A/V | 0.1551 | likely_benign | 0.1375 | benign | -0.422 | Destabilizing | 0.361 | N | 0.269 | neutral | N | 0.444604614 | None | None | I |
| A/W | 0.7491 | likely_pathogenic | 0.6963 | pathogenic | -1.047 | Destabilizing | 0.984 | D | 0.579 | neutral | None | None | None | None | I |
| A/Y | 0.5755 | likely_pathogenic | 0.5273 | ambiguous | -0.756 | Destabilizing | 0.942 | D | 0.451 | neutral | None | None | 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.