Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29230 | 87913;87914;87915 | chr2:178557666;178557665;178557664 | chr2:179422393;179422392;179422391 |
| N2AB | 27589 | 82990;82991;82992 | chr2:178557666;178557665;178557664 | chr2:179422393;179422392;179422391 |
| N2A | 26662 | 80209;80210;80211 | chr2:178557666;178557665;178557664 | chr2:179422393;179422392;179422391 |
| N2B | 20165 | 60718;60719;60720 | chr2:178557666;178557665;178557664 | chr2:179422393;179422392;179422391 |
| Novex-1 | 20290 | 61093;61094;61095 | chr2:178557666;178557665;178557664 | chr2:179422393;179422392;179422391 |
| Novex-2 | 20357 | 61294;61295;61296 | chr2:178557666;178557665;178557664 | chr2:179422393;179422392;179422391 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/S | rs1309744961  |
-0.991 | 0.002 | N | 0.293 | 0.072 | 0.0401082797425 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1309744961 |
-0.991 | 0.002 | N | 0.293 | 0.072 | 0.0401082797425 | gnomAD-4.0.0 | 1.36849E-06 | None | None | None | None | N | None | 5.97872E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0728 | likely_benign | 0.0727 | benign | -0.571 | Destabilizing | None | N | 0.277 | neutral | N | 0.511147398 | None | None | N |
| T/C | 0.209 | likely_benign | 0.2317 | benign | -0.435 | Destabilizing | 0.685 | D | 0.663 | prob.neutral | None | None | None | None | N |
| T/D | 0.3162 | likely_benign | 0.333 | benign | 0.254 | Stabilizing | 0.075 | N | 0.708 | prob.delet. | None | None | None | None | N |
| T/E | 0.2072 | likely_benign | 0.2205 | benign | 0.245 | Stabilizing | 0.075 | N | 0.667 | prob.neutral | None | None | None | None | N |
| T/F | 0.1446 | likely_benign | 0.1513 | benign | -0.722 | Destabilizing | 0.221 | N | 0.713 | prob.delet. | None | None | None | None | N |
| T/G | 0.234 | likely_benign | 0.2525 | benign | -0.804 | Destabilizing | 0.075 | N | 0.601 | neutral | None | None | None | None | N |
| T/H | 0.1776 | likely_benign | 0.1853 | benign | -1.025 | Destabilizing | 0.869 | D | 0.667 | prob.neutral | None | None | None | None | N |
| T/I | 0.0616 | likely_benign | 0.0662 | benign | -0.055 | Destabilizing | None | N | 0.419 | neutral | N | 0.492388279 | None | None | N |
| T/K | 0.1395 | likely_benign | 0.1326 | benign | -0.471 | Destabilizing | 0.075 | N | 0.67 | prob.neutral | None | None | None | None | N |
| T/L | 0.0575 | likely_benign | 0.0603 | benign | -0.055 | Destabilizing | 0.006 | N | 0.595 | neutral | None | None | None | None | N |
| T/M | 0.0588 | likely_benign | 0.0626 | benign | 0.004 | Stabilizing | 0.221 | N | 0.681 | prob.neutral | None | None | None | None | N |
| T/N | 0.104 | likely_benign | 0.1076 | benign | -0.408 | Destabilizing | 0.058 | N | 0.671 | prob.neutral | N | 0.466832426 | None | None | N |
| T/P | 0.1392 | likely_benign | 0.1417 | benign | -0.194 | Destabilizing | 0.303 | N | 0.769 | deleterious | N | 0.468099874 | None | None | N |
| T/Q | 0.1534 | likely_benign | 0.1608 | benign | -0.531 | Destabilizing | 0.366 | N | 0.753 | deleterious | None | None | None | None | N |
| T/R | 0.1167 | likely_benign | 0.1079 | benign | -0.271 | Destabilizing | 0.366 | N | 0.765 | deleterious | None | None | None | None | N |
| T/S | 0.1015 | likely_benign | 0.1069 | benign | -0.704 | Destabilizing | 0.002 | N | 0.293 | neutral | N | 0.491521487 | None | None | N |
| T/V | 0.052 | likely_benign | 0.0578 | benign | -0.194 | Destabilizing | None | N | 0.313 | neutral | None | None | None | None | N |
| T/W | 0.4051 | ambiguous | 0.4222 | ambiguous | -0.686 | Destabilizing | 0.869 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/Y | 0.1966 | likely_benign | 0.2001 | benign | -0.425 | Destabilizing | 0.366 | N | 0.73 | 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.