Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14809 | 44650;44651;44652 | chr2:178625396;178625395;178625394 | chr2:179490123;179490122;179490121 |
| N2AB | 13168 | 39727;39728;39729 | chr2:178625396;178625395;178625394 | chr2:179490123;179490122;179490121 |
| N2A | 12241 | 36946;36947;36948 | chr2:178625396;178625395;178625394 | chr2:179490123;179490122;179490121 |
| N2B | 5744 | 17455;17456;17457 | chr2:178625396;178625395;178625394 | chr2:179490123;179490122;179490121 |
| Novex-1 | 5869 | 17830;17831;17832 | chr2:178625396;178625395;178625394 | chr2:179490123;179490122;179490121 |
| Novex-2 | 5936 | 18031;18032;18033 | chr2:178625396;178625395;178625394 | chr2:179490123;179490122;179490121 |
| 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/L | rs775225695  |
-0.424 | 0.898 | N | 0.485 | 0.138 | 0.566443977814 | gnomAD-2.1.1 | 5.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.61E-05 | None | 0 | 0 | 0 |
| V/L | rs775225695 |
-0.424 | 0.898 | N | 0.485 | 0.138 | 0.566443977814 | gnomAD-3.1.2 | 6.6E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07641E-04 | 0 |
| V/L | rs775225695 |
-0.424 | 0.898 | N | 0.485 | 0.138 | 0.566443977814 | gnomAD-4.0.0 | 6.46488E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.27662E-04 | 0 |
| V/M | rs775225695 |
None | 0.993 | D | 0.747 | 0.374 | 0.628821965753 | gnomAD-3.1.2 | 6.6E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs775225695 |
None | 0.993 | D | 0.747 | 0.374 | 0.628821965753 | gnomAD-4.0.0 | 6.46488E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.9245E-06 | 0 | 3.35132E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2753 | likely_benign | 0.3043 | benign | -1.864 | Destabilizing | 0.977 | D | 0.496 | neutral | D | 0.596471348 | None | None | N |
| V/C | 0.7593 | likely_pathogenic | 0.7705 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| V/D | 0.6974 | likely_pathogenic | 0.7722 | pathogenic | -2.08 | Highly Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| V/E | 0.6324 | likely_pathogenic | 0.6987 | pathogenic | -1.958 | Destabilizing | 0.999 | D | 0.803 | deleterious | D | 0.662464802 | None | None | N |
| V/F | 0.2052 | likely_benign | 0.2254 | benign | -1.202 | Destabilizing | 0.995 | D | 0.792 | deleterious | None | None | None | None | N |
| V/G | 0.4287 | ambiguous | 0.4917 | ambiguous | -2.321 | Highly Destabilizing | 0.999 | D | 0.811 | deleterious | D | 0.661144862 | None | None | N |
| V/H | 0.7268 | likely_pathogenic | 0.7587 | pathogenic | -2.069 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| V/I | 0.0858 | likely_benign | 0.0843 | benign | -0.643 | Destabilizing | 0.15 | N | 0.324 | neutral | None | None | None | None | N |
| V/K | 0.7402 | likely_pathogenic | 0.7915 | pathogenic | -1.709 | Destabilizing | 0.998 | D | 0.806 | deleterious | None | None | None | None | N |
| V/L | 0.3335 | likely_benign | 0.3558 | ambiguous | -0.643 | Destabilizing | 0.898 | D | 0.485 | neutral | N | 0.510564226 | None | None | N |
| V/M | 0.2308 | likely_benign | 0.259 | benign | -0.534 | Destabilizing | 0.993 | D | 0.747 | deleterious | D | 0.580471954 | None | None | N |
| V/N | 0.5319 | ambiguous | 0.6098 | pathogenic | -1.737 | Destabilizing | 0.999 | D | 0.836 | deleterious | None | None | None | None | N |
| V/P | 0.9047 | likely_pathogenic | 0.9283 | pathogenic | -1.018 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| V/Q | 0.6615 | likely_pathogenic | 0.721 | pathogenic | -1.711 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| V/R | 0.6369 | likely_pathogenic | 0.6997 | pathogenic | -1.385 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| V/S | 0.43 | ambiguous | 0.4756 | ambiguous | -2.33 | Highly Destabilizing | 0.998 | D | 0.801 | deleterious | None | None | None | None | N |
| V/T | 0.2713 | likely_benign | 0.2923 | benign | -2.08 | Highly Destabilizing | 0.983 | D | 0.573 | neutral | None | None | None | None | N |
| V/W | 0.844 | likely_pathogenic | 0.8494 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| V/Y | 0.5496 | ambiguous | 0.5744 | pathogenic | -1.276 | Destabilizing | 0.999 | D | 0.803 | deleterious | 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.