Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30594 | 92005;92006;92007 | chr2:178550058;178550057;178550056 | chr2:179414785;179414784;179414783 |
| N2AB | 28953 | 87082;87083;87084 | chr2:178550058;178550057;178550056 | chr2:179414785;179414784;179414783 |
| N2A | 28026 | 84301;84302;84303 | chr2:178550058;178550057;178550056 | chr2:179414785;179414784;179414783 |
| N2B | 21529 | 64810;64811;64812 | chr2:178550058;178550057;178550056 | chr2:179414785;179414784;179414783 |
| Novex-1 | 21654 | 65185;65186;65187 | chr2:178550058;178550057;178550056 | chr2:179414785;179414784;179414783 |
| Novex-2 | 21721 | 65386;65387;65388 | chr2:178550058;178550057;178550056 | chr2:179414785;179414784;179414783 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs1399257168  |
-0.368 | 0.987 | D | 0.705 | 0.451 | 0.6184965563 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29584E-04 | 0 |
| R/C | rs1399257168 |
-0.368 | 0.987 | D | 0.705 | 0.451 | 0.6184965563 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/C | rs1399257168 |
-0.368 | 0.987 | D | 0.705 | 0.451 | 0.6184965563 | gnomAD-4.0.0 | 6.19732E-06 | None | None | None | None | N | None | 1.33551E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78106E-06 | 1.09791E-05 | 0 |
| R/H | rs759363893 |
-1.164 | 0.953 | N | 0.652 | 0.331 | 0.381916209588 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| R/H | rs759363893 |
-1.164 | 0.953 | N | 0.652 | 0.331 | 0.381916209588 | gnomAD-4.0.0 | 8.89506E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51953E-05 | None | 0 | 0 | 7.19602E-06 | 4.63779E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.2913 | likely_benign | 0.3271 | benign | -0.297 | Destabilizing | 0.121 | N | 0.583 | neutral | None | None | None | None | N |
| R/C | 0.1377 | likely_benign | 0.1668 | benign | -0.31 | Destabilizing | 0.987 | D | 0.705 | prob.neutral | D | 0.536406494 | None | None | N |
| R/D | 0.6556 | likely_pathogenic | 0.6652 | pathogenic | 0.092 | Stabilizing | 0.539 | D | 0.628 | neutral | None | None | None | None | N |
| R/E | 0.3581 | ambiguous | 0.3943 | ambiguous | 0.19 | Stabilizing | 0.25 | N | 0.561 | neutral | None | None | None | None | N |
| R/F | 0.5609 | ambiguous | 0.5984 | pathogenic | -0.292 | Destabilizing | 0.826 | D | 0.714 | prob.delet. | None | None | None | None | N |
| R/G | 0.1606 | likely_benign | 0.1969 | benign | -0.565 | Destabilizing | 0.39 | N | 0.571 | neutral | N | 0.488036544 | None | None | N |
| R/H | 0.1121 | likely_benign | 0.121 | benign | -0.957 | Destabilizing | 0.953 | D | 0.652 | neutral | N | 0.489744934 | None | None | N |
| R/I | 0.3481 | ambiguous | 0.379 | ambiguous | 0.399 | Stabilizing | 0.7 | D | 0.718 | prob.delet. | None | None | None | None | N |
| R/K | 0.1345 | likely_benign | 0.1515 | benign | -0.315 | Destabilizing | 0.121 | N | 0.532 | neutral | None | None | None | None | N |
| R/L | 0.2587 | likely_benign | 0.305 | benign | 0.399 | Stabilizing | 0.561 | D | 0.588 | neutral | N | 0.491960207 | None | None | N |
| R/M | 0.2803 | likely_benign | 0.3202 | benign | -0.008 | Destabilizing | 0.982 | D | 0.674 | neutral | None | None | None | None | N |
| R/N | 0.5258 | ambiguous | 0.5477 | ambiguous | 0.107 | Stabilizing | 0.25 | N | 0.579 | neutral | None | None | None | None | N |
| R/P | 0.8229 | likely_pathogenic | 0.828 | pathogenic | 0.189 | Stabilizing | 0.817 | D | 0.723 | prob.delet. | N | 0.510317951 | None | None | N |
| R/Q | 0.0995 | likely_benign | 0.1169 | benign | -0.037 | Destabilizing | 0.7 | D | 0.629 | neutral | None | None | None | None | N |
| R/S | 0.3333 | likely_benign | 0.3589 | ambiguous | -0.477 | Destabilizing | 0.004 | N | 0.364 | neutral | N | 0.460212437 | None | None | N |
| R/T | 0.1591 | likely_benign | 0.1837 | benign | -0.215 | Destabilizing | 0.25 | N | 0.61 | neutral | None | None | None | None | N |
| R/V | 0.3896 | ambiguous | 0.433 | ambiguous | 0.189 | Stabilizing | 0.7 | D | 0.704 | prob.neutral | None | None | None | None | N |
| R/W | 0.2143 | likely_benign | 0.2507 | benign | -0.129 | Destabilizing | 0.982 | D | 0.7 | prob.neutral | None | None | None | None | N |
| R/Y | 0.3911 | ambiguous | 0.4327 | ambiguous | 0.224 | Stabilizing | 0.826 | D | 0.725 | prob.delet. | None | None | 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.