Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23694 | 71305;71306;71307 | chr2:178575052;178575051;178575050 | chr2:179439779;179439778;179439777 |
| N2AB | 22053 | 66382;66383;66384 | chr2:178575052;178575051;178575050 | chr2:179439779;179439778;179439777 |
| N2A | 21126 | 63601;63602;63603 | chr2:178575052;178575051;178575050 | chr2:179439779;179439778;179439777 |
| N2B | 14629 | 44110;44111;44112 | chr2:178575052;178575051;178575050 | chr2:179439779;179439778;179439777 |
| Novex-1 | 14754 | 44485;44486;44487 | chr2:178575052;178575051;178575050 | chr2:179439779;179439778;179439777 |
| Novex-2 | 14821 | 44686;44687;44688 | chr2:178575052;178575051;178575050 | chr2:179439779;179439778;179439777 |
| 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/H | rs1432742107  |
-0.692 | 0.896 | N | 0.417 | 0.205 | 0.332902724076 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| N/H | rs1432742107 |
-0.692 | 0.896 | N | 0.417 | 0.205 | 0.332902724076 | gnomAD-4.0.0 | 1.59204E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43291E-05 | 0 |
| N/S | rs758750534 |
-0.439 | 0.002 | N | 0.136 | 0.083 | 0.0986583533028 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| N/S | rs758750534 |
-0.439 | 0.002 | N | 0.136 | 0.083 | 0.0986583533028 | gnomAD-4.0.0 | 2.05306E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99578E-07 | 1.15945E-05 | 1.65706E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1465 | likely_benign | 0.1832 | benign | -0.156 | Destabilizing | 0.25 | N | 0.417 | neutral | None | None | None | None | N |
| N/C | 0.1732 | likely_benign | 0.1965 | benign | 0.279 | Stabilizing | 0.977 | D | 0.51 | neutral | None | None | None | None | N |
| N/D | 0.1991 | likely_benign | 0.2322 | benign | -1.451 | Destabilizing | 0.549 | D | 0.377 | neutral | N | 0.462658096 | None | None | N |
| N/E | 0.3661 | ambiguous | 0.4361 | ambiguous | -1.377 | Destabilizing | 0.447 | N | 0.328 | neutral | None | None | None | None | N |
| N/F | 0.3982 | ambiguous | 0.4595 | ambiguous | -0.223 | Destabilizing | 0.92 | D | 0.519 | neutral | None | None | None | None | N |
| N/G | 0.1868 | likely_benign | 0.2275 | benign | -0.457 | Destabilizing | 0.447 | N | 0.355 | neutral | None | None | None | None | N |
| N/H | 0.0803 | likely_benign | 0.076 | benign | -0.52 | Destabilizing | 0.896 | D | 0.417 | neutral | N | 0.496906743 | None | None | N |
| N/I | 0.1475 | likely_benign | 0.1995 | benign | 0.584 | Stabilizing | 0.036 | N | 0.351 | neutral | N | 0.497080101 | None | None | N |
| N/K | 0.2223 | likely_benign | 0.2493 | benign | -0.074 | Destabilizing | 0.004 | N | 0.197 | neutral | N | 0.450651591 | None | None | N |
| N/L | 0.1558 | likely_benign | 0.1986 | benign | 0.584 | Stabilizing | 0.447 | N | 0.465 | neutral | None | None | None | None | N |
| N/M | 0.2175 | likely_benign | 0.2718 | benign | 1.132 | Stabilizing | 0.977 | D | 0.465 | neutral | None | None | None | None | N |
| N/P | 0.5653 | likely_pathogenic | 0.597 | pathogenic | 0.368 | Stabilizing | 0.92 | D | 0.485 | neutral | None | None | None | None | N |
| N/Q | 0.2276 | likely_benign | 0.2505 | benign | -0.901 | Destabilizing | 0.739 | D | 0.399 | neutral | None | None | None | None | N |
| N/R | 0.231 | likely_benign | 0.2491 | benign | -0.043 | Destabilizing | 0.447 | N | 0.373 | neutral | None | None | None | None | N |
| N/S | 0.0623 | likely_benign | 0.0686 | benign | -0.58 | Destabilizing | 0.002 | N | 0.136 | neutral | N | 0.410170406 | None | None | N |
| N/T | 0.0828 | likely_benign | 0.0977 | benign | -0.354 | Destabilizing | 0.379 | N | 0.344 | neutral | N | 0.44495777 | None | None | N |
| N/V | 0.1529 | likely_benign | 0.1984 | benign | 0.368 | Stabilizing | 0.447 | N | 0.449 | neutral | None | None | None | None | N |
| N/W | 0.5964 | likely_pathogenic | 0.639 | pathogenic | -0.203 | Destabilizing | 0.992 | D | 0.597 | neutral | None | None | None | None | N |
| N/Y | 0.1273 | likely_benign | 0.1375 | benign | 0.166 | Stabilizing | 0.963 | D | 0.487 | neutral | N | 0.501851203 | 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.