Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23657 | 71194;71195;71196 | chr2:178575163;178575162;178575161 | chr2:179439890;179439889;179439888 |
| N2AB | 22016 | 66271;66272;66273 | chr2:178575163;178575162;178575161 | chr2:179439890;179439889;179439888 |
| N2A | 21089 | 63490;63491;63492 | chr2:178575163;178575162;178575161 | chr2:179439890;179439889;179439888 |
| N2B | 14592 | 43999;44000;44001 | chr2:178575163;178575162;178575161 | chr2:179439890;179439889;179439888 |
| Novex-1 | 14717 | 44374;44375;44376 | chr2:178575163;178575162;178575161 | chr2:179439890;179439889;179439888 |
| Novex-2 | 14784 | 44575;44576;44577 | chr2:178575163;178575162;178575161 | chr2:179439890;179439889;179439888 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs754468593  |
-1.651 | 0.999 | N | 0.598 | 0.637 | 0.721090787401 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.97E-06 | 0 |
| V/A | rs754468593 |
-1.651 | 0.999 | N | 0.598 | 0.637 | 0.721090787401 | gnomAD-4.0.0 | 3.42342E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49903E-06 | 0 | 0 |
| V/G | rs754468593 |
-2.245 | 1.0 | D | 0.82 | 0.76 | 0.88305327775 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 2.92E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs754468593 |
-2.245 | 1.0 | D | 0.82 | 0.76 | 0.88305327775 | gnomAD-4.0.0 | 6.84684E-07 | None | None | None | None | I | None | 0 | 2.24044E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | None | None | 0.997 | D | 0.621 | 0.505 | 0.744215552228 | gnomAD-4.0.0 | 6.84679E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16104E-05 | 0 |
| V/M | rs752876499 |
-0.634 | 1.0 | D | 0.74 | 0.6 | 0.784675601237 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.58E-05 | None | 0 | 0 | 0 |
| V/M | rs752876499 |
-0.634 | 1.0 | D | 0.74 | 0.6 | 0.784675601237 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07469E-04 | 0 |
| V/M | rs752876499 |
-0.634 | 1.0 | D | 0.74 | 0.6 | 0.784675601237 | gnomAD-4.0.0 | 1.86035E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.29852E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6768 | likely_pathogenic | 0.6915 | pathogenic | -1.256 | Destabilizing | 0.999 | D | 0.598 | neutral | N | 0.463650679 | None | None | I |
| V/C | 0.8449 | likely_pathogenic | 0.8549 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| V/D | 0.9884 | likely_pathogenic | 0.9883 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | I |
| V/E | 0.9574 | likely_pathogenic | 0.9594 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.584836613 | None | None | I |
| V/F | 0.2897 | likely_benign | 0.2591 | benign | -1.169 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| V/G | 0.8304 | likely_pathogenic | 0.8351 | pathogenic | -1.515 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.543046976 | None | None | I |
| V/H | 0.9554 | likely_pathogenic | 0.957 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| V/I | 0.08 | likely_benign | 0.0769 | benign | -0.673 | Destabilizing | 0.998 | D | 0.555 | neutral | None | None | None | None | I |
| V/K | 0.9521 | likely_pathogenic | 0.9575 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| V/L | 0.2516 | likely_benign | 0.2448 | benign | -0.673 | Destabilizing | 0.997 | D | 0.621 | neutral | D | 0.562674283 | None | None | I |
| V/M | 0.2762 | likely_benign | 0.2627 | benign | -0.472 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.568181479 | None | None | I |
| V/N | 0.9428 | likely_pathogenic | 0.9433 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| V/P | 0.975 | likely_pathogenic | 0.9771 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| V/Q | 0.9248 | likely_pathogenic | 0.9286 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| V/R | 0.9233 | likely_pathogenic | 0.9294 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| V/S | 0.8316 | likely_pathogenic | 0.8352 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| V/T | 0.7271 | likely_pathogenic | 0.7396 | pathogenic | -1.188 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | I |
| V/W | 0.9546 | likely_pathogenic | 0.9503 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| V/Y | 0.8011 | likely_pathogenic | 0.792 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.809 | deleterious | 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.